esv2723817
- Organism: Homo sapiens
- Study:estd201 (Wong et al. 2013)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:GRCh37 (hg19)
- Variant Calls:21
- Validation:Not tested
- Clinical Assertions: No
- Region Size:115,128
- Publication(s):Wong et al. 2013
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: 423 SVs from 53 studies. See in: genome view
Overlapping variant regions from other studies: 428 SVs from 53 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Outer Start | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|
| esv2723817 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000001.11 | Chr1 | 224,945,870 | 225,060,997 |
| esv2723817 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000001.10 | Chr1 | 225,133,572 | 225,248,699 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| essv6845443 | deletion | SSM011 | Sequencing | Paired-end mapping | 2,960 |
| essv6726021 | deletion | SSM046 | Sequencing | Paired-end mapping | 3,393 |
| essv6718322 | deletion | SSM044 | Sequencing | Paired-end mapping | 3,453 |
| essv6810468 | deletion | SSM076 | Sequencing | Paired-end mapping | 2,535 |
| essv6859404 | deletion | SSM088 | Sequencing | Paired-end mapping | 4,275 |
| essv6871860 | deletion | SSM091 | Sequencing | Paired-end mapping | 2,687 |
| essv6813315 | deletion | SSM077 | Sequencing | Paired-end mapping | 3,068 |
| essv6785170 | deletion | SSM069 | Sequencing | Paired-end mapping | 3,725 |
| essv6847302 | deletion | SSM086 | Sequencing | Paired-end mapping | 5,602 |
| essv6836350 | deletion | SSM083 | Sequencing | Paired-end mapping | 3,414 |
| essv6797631 | deletion | SSM072 | Sequencing | Paired-end mapping | 3,775 |
| essv6807528 | deletion | SSM075 | Sequencing | Paired-end mapping | 2,669 |
| essv6720176 | deletion | SSM007 | Sequencing | Paired-end mapping | 2,647 |
| essv6707414 | deletion | SSM041 | Sequencing | Paired-end mapping | 2,980 |
| essv6880562 | deletion | SSM094 | Sequencing | Paired-end mapping | 2,544 |
| essv6886118 | deletion | SSM096 | Sequencing | Paired-end mapping | 2,714 |
| essv6829168 | deletion | SSM081 | Sequencing | Paired-end mapping | 3,222 |
| essv6789336 | deletion | SSM070 | Sequencing | Paired-end mapping | 3,746 |
| essv6804556 | deletion | SSM074 | Sequencing | Paired-end mapping | 2,676 |
| essv6722169 | deletion | SSM045 | Sequencing | Paired-end mapping | 3,460 |
| essv6789337 | deletion | SSM070 | Sequencing | Paired-end mapping | 3,746 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv6845443 | Remapped | Perfect | NC_000001.11:g.(22 4945870_?)_(?_2250 60994)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 224,945,870 | 225,060,994 |
| essv6726021 | Remapped | Perfect | NC_000001.11:g.(22 4945878_?)_(?_2250 60994)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 224,945,878 | 225,060,994 |
| essv6718322 | Remapped | Perfect | NC_000001.11:g.(22 4945879_?)_(?_2250 60997)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 224,945,879 | 225,060,997 |
| essv6810468 | Remapped | Perfect | NC_000001.11:g.(22 4945879_?)_(?_2250 61003)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 224,945,879 | 225,061,003 |
| essv6859404 | Remapped | Perfect | NC_000001.11:g.(22 4945882_?)_(?_2250 60993)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 224,945,882 | 225,060,993 |
| essv6871860 | Remapped | Perfect | NC_000001.11:g.(22 4945882_?)_(?_2250 60997)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 224,945,882 | 225,060,997 |
| essv6813315 | Remapped | Perfect | NC_000001.11:g.(22 4945882_?)_(?_2250 60998)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 224,945,882 | 225,060,998 |
| essv6785170 | Remapped | Perfect | NC_000001.11:g.(22 4945883_?)_(?_2250 61003)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 224,945,883 | 225,061,003 |
| essv6847302 | Remapped | Perfect | NC_000001.11:g.(22 4945886_?)_(?_2250 60993)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 224,945,886 | 225,060,993 |
| essv6836350 | Remapped | Perfect | NC_000001.11:g.(22 4945886_?)_(?_2250 60995)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 224,945,886 | 225,060,995 |
| essv6797631 | Remapped | Perfect | NC_000001.11:g.(22 4945886_?)_(?_2250 61000)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 224,945,886 | 225,061,000 |
| essv6807528 | Remapped | Perfect | NC_000001.11:g.(22 4945886_?)_(?_2250 61001)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 224,945,886 | 225,061,001 |
| essv6720176 | Remapped | Perfect | NC_000001.11:g.(22 4945886_?)_(?_2250 61002)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 224,945,886 | 225,061,002 |
| essv6707414 | Remapped | Perfect | NC_000001.11:g.(22 4945888_?)_(?_2250 60993)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 224,945,888 | 225,060,993 |
| essv6880562 | Remapped | Perfect | NC_000001.11:g.(22 4945888_?)_(?_2250 60993)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 224,945,888 | 225,060,993 |
| essv6886118 | Remapped | Perfect | NC_000001.11:g.(22 4945888_?)_(?_2250 60993)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 224,945,888 | 225,060,993 |
| essv6829168 | Remapped | Perfect | NC_000001.11:g.(22 4945888_?)_(?_2250 60994)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 224,945,888 | 225,060,994 |
| essv6789336 | Remapped | Perfect | NC_000001.11:g.(22 4945888_?)_(?_2250 60998)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 224,945,888 | 225,060,998 |
| essv6804556 | Remapped | Perfect | NC_000001.11:g.(22 4945888_?)_(?_2250 60998)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 224,945,888 | 225,060,998 |
| essv6722169 | Remapped | Perfect | NC_000001.11:g.(22 4945888_?)_(?_2250 61002)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 224,945,888 | 225,061,002 |
| essv6789337 | Remapped | Perfect | NC_000001.11:g.(22 5015659_?)_(?_2250 16068)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 225,015,659 | 225,016,068 |
| essv6845443 | Submitted genomic | NC_000001.10:g.(22 5133572_?)_(?_2252 48696)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 225,133,572 | 225,248,696 | ||
| essv6726021 | Submitted genomic | NC_000001.10:g.(22 5133580_?)_(?_2252 48696)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 225,133,580 | 225,248,696 | ||
| essv6718322 | Submitted genomic | NC_000001.10:g.(22 5133581_?)_(?_2252 48699)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 225,133,581 | 225,248,699 | ||
| essv6810468 | Submitted genomic | NC_000001.10:g.(22 5133581_?)_(?_2252 48705)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 225,133,581 | 225,248,705 | ||
| essv6859404 | Submitted genomic | NC_000001.10:g.(22 5133584_?)_(?_2252 48695)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 225,133,584 | 225,248,695 | ||
| essv6871860 | Submitted genomic | NC_000001.10:g.(22 5133584_?)_(?_2252 48699)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 225,133,584 | 225,248,699 | ||
| essv6813315 | Submitted genomic | NC_000001.10:g.(22 5133584_?)_(?_2252 48700)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 225,133,584 | 225,248,700 | ||
| essv6785170 | Submitted genomic | NC_000001.10:g.(22 5133585_?)_(?_2252 48705)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 225,133,585 | 225,248,705 | ||
| essv6847302 | Submitted genomic | NC_000001.10:g.(22 5133588_?)_(?_2252 48695)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 225,133,588 | 225,248,695 | ||
| essv6836350 | Submitted genomic | NC_000001.10:g.(22 5133588_?)_(?_2252 48697)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 225,133,588 | 225,248,697 | ||
| essv6797631 | Submitted genomic | NC_000001.10:g.(22 5133588_?)_(?_2252 48702)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 225,133,588 | 225,248,702 | ||
| essv6807528 | Submitted genomic | NC_000001.10:g.(22 5133588_?)_(?_2252 48703)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 225,133,588 | 225,248,703 | ||
| essv6720176 | Submitted genomic | NC_000001.10:g.(22 5133588_?)_(?_2252 48704)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 225,133,588 | 225,248,704 | ||
| essv6707414 | Submitted genomic | NC_000001.10:g.(22 5133590_?)_(?_2252 48695)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 225,133,590 | 225,248,695 | ||
| essv6880562 | Submitted genomic | NC_000001.10:g.(22 5133590_?)_(?_2252 48695)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 225,133,590 | 225,248,695 | ||
| essv6886118 | Submitted genomic | NC_000001.10:g.(22 5133590_?)_(?_2252 48695)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 225,133,590 | 225,248,695 | ||
| essv6829168 | Submitted genomic | NC_000001.10:g.(22 5133590_?)_(?_2252 48696)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 225,133,590 | 225,248,696 | ||
| essv6789336 | Submitted genomic | NC_000001.10:g.(22 5133590_?)_(?_2252 48700)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 225,133,590 | 225,248,700 | ||
| essv6804556 | Submitted genomic | NC_000001.10:g.(22 5133590_?)_(?_2252 48700)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 225,133,590 | 225,248,700 | ||
| essv6722169 | Submitted genomic | NC_000001.10:g.(22 5133590_?)_(?_2252 48704)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 225,133,590 | 225,248,704 | ||
| essv6789337 | Submitted genomic | NC_000001.10:g.(22 5203361_?)_(?_2252 03770)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 225,203,361 | 225,203,770 |