esv12664
- Organism: Homo sapiens
- Study:estd20 (Conrad et al. 2009)
- Variant Type:copy number variation
- Method Type:Oligo aCGH
- Submitted on:NCBI36 (hg18)
- Variant Calls:23
- Validation:Yes
- Clinical Assertions: No
- Region Size:29,679
- Publication(s):Conrad et al. 2009
Source: NCBI
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 215 SVs from 50 studies. See in: genome view
Overlapping variant regions from other studies: 215 SVs from 50 studies. See in: genome view
Overlapping variant regions from other studies: 65 SVs from 14 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| esv12664 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000002.12 | Chr2 | 73,782,580 | 73,812,258 |
| esv12664 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000002.11 | Chr2 | 74,009,707 | 74,039,385 |
| esv12664 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000002.10 | Chr2 | 73,863,215 | 73,892,893 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| essv63722 | copy number gain | NA07045 | Oligo aCGH | Probe signal intensity | 1,341 |
| essv40165 | copy number gain | NA12878 | Oligo aCGH | Probe signal intensity | 1,172 |
| essv84019 | copy number loss | NA19190 | Oligo aCGH | Probe signal intensity | 1,600 |
| essv71955 | copy number loss | NA19225 | Oligo aCGH | Probe signal intensity | 1,558 |
| essv43468 | copy number loss | NA18909 | Oligo aCGH | Probe signal intensity | 1,535 |
| essv59152 | copy number gain | NA19108 | Oligo aCGH | Probe signal intensity | 1,563 |
| essv63161 | copy number gain | NA15510 | Oligo aCGH | Probe signal intensity | 1,307 |
| essv76999 | copy number gain | NA18511 | Oligo aCGH | Probe signal intensity | 986 |
| essv67551 | copy number loss | NA18858 | Oligo aCGH | Probe signal intensity | 1,507 |
| essv35048 | copy number loss | NA18502 | Oligo aCGH | Probe signal intensity | 1,373 |
| essv41954 | copy number loss | NA18505 | Oligo aCGH | Probe signal intensity | 1,411 |
| essv55169 | copy number loss | NA19099 | Oligo aCGH | Probe signal intensity | 1,498 |
| essv78577 | copy number loss | NA06985 | Oligo aCGH | Probe signal intensity | 1,144 |
| essv53742 | copy number loss | NA18508 | Oligo aCGH | Probe signal intensity | 1,478 |
| essv70297 | copy number loss | NA18916 | Oligo aCGH | Probe signal intensity | 1,538 |
| essv32811 | copy number loss | NA19147 | Oligo aCGH | Probe signal intensity | 1,541 |
| essv60990 | copy number gain | NA12239 | Oligo aCGH | Probe signal intensity | 1,252 |
| essv49388 | copy number loss | NA18517 | Oligo aCGH | Probe signal intensity | 1,365 |
| essv81445 | copy number loss | NA19114 | Oligo aCGH | Probe signal intensity | 1,473 |
| essv45435 | copy number gain | NA19129 | Oligo aCGH | Probe signal intensity | 1,564 |
| essv66958 | copy number loss | NA12828 | Oligo aCGH | Probe signal intensity | 1,072 |
| essv47017 | copy number loss | NA18861 | Oligo aCGH | Probe signal intensity | 1,407 |
| essv51927 | copy number loss | NA12006 | Oligo aCGH | Probe signal intensity | 1,080 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv63722 | Remapped | Perfect | NC_000002.12:g.(?_ 73781535)_(7380782 2_?)dup | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 73,781,535 | 73,807,822 |
| essv40165 | Remapped | Perfect | NC_000002.12:g.(?_ 73781535)_(7380890 0_?)dup | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 73,781,535 | 73,808,900 |
| essv84019 | Remapped | Perfect | NC_000002.12:g.(?_ 73782580)_(7381314 8_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 73,782,580 | 73,813,148 |
| essv71955 | Remapped | Perfect | NC_000002.12:g.(?_ 73782660)_(7381007 2_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 73,782,660 | 73,810,072 |
| essv43468 | Remapped | Perfect | NC_000002.12:g.(?_ 73782825)_(7380948 7_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 73,782,825 | 73,809,487 |
| essv59152 | Remapped | Perfect | NC_000002.12:g.(?_ 73782825)_(7381013 8_?)dup | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 73,782,825 | 73,810,138 |
| essv63161 | Remapped | Perfect | NC_000002.12:g.(?_ 73783003)_(7380944 1_?)dup | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 73,783,003 | 73,809,441 |
| essv76999 | Remapped | Perfect | NC_000002.12:g.(?_ 73783168)_(7380931 1_?)dup | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 73,783,168 | 73,809,311 |
| essv67551 | Remapped | Perfect | NC_000002.12:g.(?_ 73783251)_(7380948 7_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 73,783,251 | 73,809,487 |
| essv35048 | Remapped | Perfect | NC_000002.12:g.(?_ 73783332)_(7380869 3_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 73,783,332 | 73,808,693 |
| essv41954 | Remapped | Perfect | NC_000002.12:g.(?_ 73783462)_(7380859 3_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 73,783,462 | 73,808,593 |
| essv55169 | Remapped | Perfect | NC_000002.12:g.(?_ 73783462)_(7380911 3_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 73,783,462 | 73,809,113 |
| essv78577 | Remapped | Perfect | NC_000002.12:g.(?_ 73783462)_(7380911 3_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 73,783,462 | 73,809,113 |
| essv53742 | Remapped | Perfect | NC_000002.12:g.(?_ 73783462)_(7380948 7_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 73,783,462 | 73,809,487 |
| essv70297 | Remapped | Perfect | NC_000002.12:g.(?_ 73783462)_(7380996 7_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 73,783,462 | 73,809,967 |
| essv32811 | Remapped | Perfect | NC_000002.12:g.(?_ 73783826)_(7381007 2_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 73,783,826 | 73,810,072 |
| essv60990 | Remapped | Perfect | NC_000002.12:g.(?_ 73783826)_(7381298 0_?)dup | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 73,783,826 | 73,812,980 |
| essv49388 | Remapped | Perfect | NC_000002.12:g.(?_ 73783904)_(7380948 7_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 73,783,904 | 73,809,487 |
| essv81445 | Remapped | Perfect | NC_000002.12:g.(?_ 73783988)_(7380911 3_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 73,783,988 | 73,809,113 |
| essv45435 | Remapped | Perfect | NC_000002.12:g.(?_ 73784097)_(7380890 0_?)dup | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 73,784,097 | 73,808,900 |
| essv66958 | Remapped | Perfect | NC_000002.12:g.(?_ 73784097)_(7381221 9_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 73,784,097 | 73,812,219 |
| essv47017 | Remapped | Perfect | NC_000002.12:g.(?_ 73784162)_(7381225 8_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 73,784,162 | 73,812,258 |
| essv51927 | Remapped | Perfect | NC_000002.12:g.(?_ 73787956)_(7380988 6_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 73,787,956 | 73,809,886 |
| essv63722 | Remapped | Perfect | NC_000002.11:g.(?_ 74008662)_(7403494 9_?)dup | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 74,008,662 | 74,034,949 |
| essv40165 | Remapped | Perfect | NC_000002.11:g.(?_ 74008662)_(7403602 7_?)dup | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 74,008,662 | 74,036,027 |
| essv84019 | Remapped | Perfect | NC_000002.11:g.(?_ 74009707)_(7404027 5_?)del | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 74,009,707 | 74,040,275 |
| essv71955 | Remapped | Perfect | NC_000002.11:g.(?_ 74009787)_(7403719 9_?)del | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 74,009,787 | 74,037,199 |
| essv43468 | Remapped | Perfect | NC_000002.11:g.(?_ 74009952)_(7403661 4_?)del | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 74,009,952 | 74,036,614 |
| essv59152 | Remapped | Perfect | NC_000002.11:g.(?_ 74009952)_(7403726 5_?)dup | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 74,009,952 | 74,037,265 |
| essv63161 | Remapped | Perfect | NC_000002.11:g.(?_ 74010130)_(7403656 8_?)dup | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 74,010,130 | 74,036,568 |
| essv76999 | Remapped | Perfect | NC_000002.11:g.(?_ 74010295)_(7403643 8_?)dup | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 74,010,295 | 74,036,438 |
| essv67551 | Remapped | Perfect | NC_000002.11:g.(?_ 74010378)_(7403661 4_?)del | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 74,010,378 | 74,036,614 |
| essv35048 | Remapped | Perfect | NC_000002.11:g.(?_ 74010459)_(7403582 0_?)del | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 74,010,459 | 74,035,820 |
| essv41954 | Remapped | Perfect | NC_000002.11:g.(?_ 74010589)_(7403572 0_?)del | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 74,010,589 | 74,035,720 |
| essv55169 | Remapped | Perfect | NC_000002.11:g.(?_ 74010589)_(7403624 0_?)del | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 74,010,589 | 74,036,240 |
| essv78577 | Remapped | Perfect | NC_000002.11:g.(?_ 74010589)_(7403624 0_?)del | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 74,010,589 | 74,036,240 |
| essv53742 | Remapped | Perfect | NC_000002.11:g.(?_ 74010589)_(7403661 4_?)del | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 74,010,589 | 74,036,614 |
| essv70297 | Remapped | Perfect | NC_000002.11:g.(?_ 74010589)_(7403709 4_?)del | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 74,010,589 | 74,037,094 |
| essv32811 | Remapped | Perfect | NC_000002.11:g.(?_ 74010953)_(7403719 9_?)del | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 74,010,953 | 74,037,199 |
| essv60990 | Remapped | Perfect | NC_000002.11:g.(?_ 74010953)_(7404010 7_?)dup | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 74,010,953 | 74,040,107 |
| essv49388 | Remapped | Perfect | NC_000002.11:g.(?_ 74011031)_(7403661 4_?)del | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 74,011,031 | 74,036,614 |
| essv81445 | Remapped | Perfect | NC_000002.11:g.(?_ 74011115)_(7403624 0_?)del | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 74,011,115 | 74,036,240 |
| essv45435 | Remapped | Perfect | NC_000002.11:g.(?_ 74011224)_(7403602 7_?)dup | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 74,011,224 | 74,036,027 |
| essv66958 | Remapped | Perfect | NC_000002.11:g.(?_ 74011224)_(7403934 6_?)del | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 74,011,224 | 74,039,346 |
| essv47017 | Remapped | Perfect | NC_000002.11:g.(?_ 74011289)_(7403938 5_?)del | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 74,011,289 | 74,039,385 |
| essv51927 | Remapped | Perfect | NC_000002.11:g.(?_ 74015083)_(7403701 3_?)del | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 74,015,083 | 74,037,013 |
| essv63722 | Submitted genomic | NC_000002.10:g.(?_ 73862170)_(7388845 7_?)dup | NCBI36 (hg18) | NC_000002.10 | Chr2 | 73,862,170 | 73,888,457 | ||
| essv40165 | Submitted genomic | NC_000002.10:g.(?_ 73862170)_(7388953 5_?)dup | NCBI36 (hg18) | NC_000002.10 | Chr2 | 73,862,170 | 73,889,535 | ||
| essv84019 | Submitted genomic | NC_000002.10:g.(?_ 73863215)_(7389378 3_?)del | NCBI36 (hg18) | NC_000002.10 | Chr2 | 73,863,215 | 73,893,783 | ||
| essv71955 | Submitted genomic | NC_000002.10:g.(?_ 73863295)_(7389070 7_?)del | NCBI36 (hg18) | NC_000002.10 | Chr2 | 73,863,295 | 73,890,707 | ||
| essv43468 | Submitted genomic | NC_000002.10:g.(?_ 73863460)_(7389012 2_?)del | NCBI36 (hg18) | NC_000002.10 | Chr2 | 73,863,460 | 73,890,122 | ||
| essv59152 | Submitted genomic | NC_000002.10:g.(?_ 73863460)_(7389077 3_?)dup | NCBI36 (hg18) | NC_000002.10 | Chr2 | 73,863,460 | 73,890,773 | ||
| essv63161 | Submitted genomic | NC_000002.10:g.(?_ 73863638)_(7389007 6_?)dup | NCBI36 (hg18) | NC_000002.10 | Chr2 | 73,863,638 | 73,890,076 | ||
| essv76999 | Submitted genomic | NC_000002.10:g.(?_ 73863803)_(7388994 6_?)dup | NCBI36 (hg18) | NC_000002.10 | Chr2 | 73,863,803 | 73,889,946 | ||
| essv67551 | Submitted genomic | NC_000002.10:g.(?_ 73863886)_(7389012 2_?)del | NCBI36 (hg18) | NC_000002.10 | Chr2 | 73,863,886 | 73,890,122 | ||
| essv35048 | Submitted genomic | NC_000002.10:g.(?_ 73863967)_(7388932 8_?)del | NCBI36 (hg18) | NC_000002.10 | Chr2 | 73,863,967 | 73,889,328 | ||
| essv41954 | Submitted genomic | NC_000002.10:g.(?_ 73864097)_(7388922 8_?)del | NCBI36 (hg18) | NC_000002.10 | Chr2 | 73,864,097 | 73,889,228 | ||
| essv55169 | Submitted genomic | NC_000002.10:g.(?_ 73864097)_(7388974 8_?)del | NCBI36 (hg18) | NC_000002.10 | Chr2 | 73,864,097 | 73,889,748 | ||
| essv78577 | Submitted genomic | NC_000002.10:g.(?_ 73864097)_(7388974 8_?)del | NCBI36 (hg18) | NC_000002.10 | Chr2 | 73,864,097 | 73,889,748 | ||
| essv53742 | Submitted genomic | NC_000002.10:g.(?_ 73864097)_(7389012 2_?)del | NCBI36 (hg18) | NC_000002.10 | Chr2 | 73,864,097 | 73,890,122 | ||
| essv70297 | Submitted genomic | NC_000002.10:g.(?_ 73864097)_(7389060 2_?)del | NCBI36 (hg18) | NC_000002.10 | Chr2 | 73,864,097 | 73,890,602 | ||
| essv32811 | Submitted genomic | NC_000002.10:g.(?_ 73864461)_(7389070 7_?)del | NCBI36 (hg18) | NC_000002.10 | Chr2 | 73,864,461 | 73,890,707 | ||
| essv60990 | Submitted genomic | NC_000002.10:g.(?_ 73864461)_(7389361 5_?)dup | NCBI36 (hg18) | NC_000002.10 | Chr2 | 73,864,461 | 73,893,615 | ||
| essv49388 | Submitted genomic | NC_000002.10:g.(?_ 73864539)_(7389012 2_?)del | NCBI36 (hg18) | NC_000002.10 | Chr2 | 73,864,539 | 73,890,122 | ||
| essv81445 | Submitted genomic | NC_000002.10:g.(?_ 73864623)_(7388974 8_?)del | NCBI36 (hg18) | NC_000002.10 | Chr2 | 73,864,623 | 73,889,748 | ||
| essv45435 | Submitted genomic | NC_000002.10:g.(?_ 73864732)_(7388953 5_?)dup | NCBI36 (hg18) | NC_000002.10 | Chr2 | 73,864,732 | 73,889,535 | ||
| essv66958 | Submitted genomic | NC_000002.10:g.(?_ 73864732)_(7389285 4_?)del | NCBI36 (hg18) | NC_000002.10 | Chr2 | 73,864,732 | 73,892,854 | ||
| essv47017 | Submitted genomic | NC_000002.10:g.(?_ 73864797)_(7389289 3_?)del | NCBI36 (hg18) | NC_000002.10 | Chr2 | 73,864,797 | 73,892,893 | ||
| essv51927 | Submitted genomic | NC_000002.10:g.(?_ 73868591)_(7389052 1_?)del | NCBI36 (hg18) | NC_000002.10 | Chr2 | 73,868,591 | 73,890,521 |
Validation Information
| Variant Call ID | Experiment ID | Sample ID | Method | Analysis | Result |
|---|---|---|---|---|---|
| essv78577 | 2 | NA06985 | Oligo aCGH | Probe signal intensity | Pass |
| essv63722 | 2 | NA07045 | Oligo aCGH | Probe signal intensity | Pass |
| essv51927 | 2 | NA12006 | Oligo aCGH | Probe signal intensity | Pass |
| essv60990 | 2 | NA12239 | Oligo aCGH | Probe signal intensity | Pass |
| essv66958 | 2 | NA12828 | Oligo aCGH | Probe signal intensity | Pass |
| essv40165 | 2 | NA12878 | Oligo aCGH | Probe signal intensity | Pass |
| essv63161 | 2 | NA15510 | Oligo aCGH | Probe signal intensity | Pass |
| essv35048 | 2 | NA18502 | Oligo aCGH | Probe signal intensity | Pass |
| essv41954 | 2 | NA18505 | Oligo aCGH | Probe signal intensity | Pass |
| essv53742 | 2 | NA18508 | Oligo aCGH | Probe signal intensity | Pass |
| essv76999 | 2 | NA18511 | Oligo aCGH | Probe signal intensity | Pass |
| essv49388 | 2 | NA18517 | Oligo aCGH | Probe signal intensity | Pass |
| essv67551 | 2 | NA18858 | Oligo aCGH | Probe signal intensity | Pass |
| essv47017 | 2 | NA18861 | Oligo aCGH | Probe signal intensity | Pass |
| essv43468 | 2 | NA18909 | Oligo aCGH | Probe signal intensity | Pass |
| essv70297 | 2 | NA18916 | Oligo aCGH | Probe signal intensity | Pass |
| essv55169 | 2 | NA19099 | Oligo aCGH | Probe signal intensity | Pass |
| essv59152 | 2 | NA19108 | Oligo aCGH | Probe signal intensity | Pass |
| essv81445 | 2 | NA19114 | Oligo aCGH | Probe signal intensity | Pass |
| essv45435 | 2 | NA19129 | Oligo aCGH | Probe signal intensity | Pass |
| essv32811 | 2 | NA19147 | Oligo aCGH | Probe signal intensity | Pass |
| essv84019 | 2 | NA19190 | Oligo aCGH | Probe signal intensity | Pass |
| essv71955 | 2 | NA19225 | Oligo aCGH | Probe signal intensity | Pass |