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dbVar

Database of genomic structural variation

esv35141

Organism: Homo sapiens

Study:estd55 (Pinto et al. 2007)
Variant Type:copy number variation
Method Type:SNP array
Submitted on:NCBI35 (hg17)

Variant Calls:5
Validation:Not tested
Clinical Assertions: No
Region Size:214,351

Description:Sample level SV from stringent call set
Publication(s):Pinto et al. 2007

Links to Other Resources

Overlapping Genes

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: 1037 SVs from 83 studies. See in: genome view

Remapped(Score: Perfect):30,248,452-30,462,802

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
esv35141	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000009.12	Chr9	30,248,452	30,462,802
esv35141	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000009.11	Chr9	30,248,450	30,462,800
esv35141	Submitted genomic		NCBI35 (hg17)	Primary Assembly		NC_000009.9	Chr9	30,238,450	30,452,800

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
essv6985444	copy number gain	NA19152	SNP array	SNP genotyping analysis	25
essv6980947	copy number gain	NA19152	SNP array	SNP genotyping analysis	25
essv6980948	copy number gain	NA19152	SNP array	SNP genotyping analysis	25
essv6985445	copy number gain	NA19152	SNP array	SNP genotyping analysis	25
essv6980949	copy number gain	NA19152	SNP array	SNP genotyping analysis	25

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
essv6985444	Remapped	Perfect	NC_000009.12:g.(?_ 30248452)_(3038415 3_?)dup	GRCh38.p12	First Pass	NC_000009.12	Chr9	30,248,452	30,384,153
essv6980947	Remapped	Perfect	NC_000009.12:g.(?_ 30252860)_(3039836 9_?)dup	GRCh38.p12	First Pass	NC_000009.12	Chr9	30,252,860	30,398,369
essv6980948	Remapped	Perfect	NC_000009.12:g.(?_ 30255387)_(3038949 5_?)dup	GRCh38.p12	First Pass	NC_000009.12	Chr9	30,255,387	30,389,495
essv6985445	Remapped	Perfect	NC_000009.12:g.(?_ 30255402)_(3038420 2_?)dup	GRCh38.p12	First Pass	NC_000009.12	Chr9	30,255,402	30,384,202
essv6980949	Remapped	Perfect	NC_000009.12:g.(?_ 30279302)_(3046280 2_?)dup	GRCh38.p12	First Pass	NC_000009.12	Chr9	30,279,302	30,462,802
essv6985444	Remapped	Perfect	NC_000009.11:g.(?_ 30248450)_(3038415 1_?)dup	GRCh37.p13	First Pass	NC_000009.11	Chr9	30,248,450	30,384,151
essv6980947	Remapped	Perfect	NC_000009.11:g.(?_ 30252858)_(3039836 7_?)dup	GRCh37.p13	First Pass	NC_000009.11	Chr9	30,252,858	30,398,367
essv6980948	Remapped	Perfect	NC_000009.11:g.(?_ 30255385)_(3038949 3_?)dup	GRCh37.p13	First Pass	NC_000009.11	Chr9	30,255,385	30,389,493
essv6985445	Remapped	Perfect	NC_000009.11:g.(?_ 30255400)_(3038420 0_?)dup	GRCh37.p13	First Pass	NC_000009.11	Chr9	30,255,400	30,384,200
essv6980949	Remapped	Perfect	NC_000009.11:g.(?_ 30279300)_(3046280 0_?)dup	GRCh37.p13	First Pass	NC_000009.11	Chr9	30,279,300	30,462,800
essv6985444	Submitted genomic		NC_000009.9:g.(?_3 0238450)_(30374151 _?)dup	NCBI35 (hg17)		NC_000009.9	Chr9	30,238,450	30,374,151
essv6980947	Submitted genomic		NC_000009.9:g.(?_3 0242858)_(30388367 _?)dup	NCBI35 (hg17)		NC_000009.9	Chr9	30,242,858	30,388,367
essv6980948	Submitted genomic		NC_000009.9:g.(?_3 0245385)_(30379493 _?)dup	NCBI35 (hg17)		NC_000009.9	Chr9	30,245,385	30,379,493
essv6985445	Submitted genomic		NC_000009.9:g.(?_3 0245400)_(30374200 _?)dup	NCBI35 (hg17)		NC_000009.9	Chr9	30,245,400	30,374,200
essv6980949	Submitted genomic		NC_000009.9:g.(?_3 0269300)_(30452800 _?)dup	NCBI35 (hg17)		NC_000009.9	Chr9	30,269,300	30,452,800

No validation data were submitted for this variant

No clinical assertion data were submitted for this variant

No genotype data were submitted for this variant

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