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dbVar

Database of genomic structural variation

esv3848506

Organism: Homo sapiens

Study:estd219 (1000 Genomes Consortium Phase 3 Integrated SV)
Variant Type:copy number variation
Method Type:Sequencing
Submitted on:GRCh37

Variant Calls:7
Validation:Not tested
Clinical Assertions: No
Region Size:47,548

Publication(s):1000 Genomes Consortium Phase 3 Integrated SV

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: 340 SVs from 60 studies. See in: genome view

Remapped(Score: Perfect):16,316,912-16,364,459

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
esv3848506	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000007.14	Chr7	16,316,912	16,364,459
esv3848506	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000007.13	Chr7	16,356,537	16,404,084

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Zygosity	Other Calls in this Sample and Study
essv20556269	deletion	HG00448	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,633
essv20556270	deletion	HG00543	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,486
essv20556271	deletion	HG00607	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,540
essv20556272	deletion	NA18558	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,586
essv20556273	deletion	NA18574	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,299
essv20556274	deletion	NA18620	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,684
essv20556275	deletion	NA18635	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,651

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
essv20556269	Remapped	Perfect	NC_000007.14:g.163 16912_16364459del	GRCh38.p12	First Pass	NC_000007.14	Chr7	16,316,912	16,364,459
essv20556270	Remapped	Perfect	NC_000007.14:g.163 16912_16364459del	GRCh38.p12	First Pass	NC_000007.14	Chr7	16,316,912	16,364,459
essv20556271	Remapped	Perfect	NC_000007.14:g.163 16912_16364459del	GRCh38.p12	First Pass	NC_000007.14	Chr7	16,316,912	16,364,459
essv20556272	Remapped	Perfect	NC_000007.14:g.163 16912_16364459del	GRCh38.p12	First Pass	NC_000007.14	Chr7	16,316,912	16,364,459
essv20556273	Remapped	Perfect	NC_000007.14:g.163 16912_16364459del	GRCh38.p12	First Pass	NC_000007.14	Chr7	16,316,912	16,364,459
essv20556274	Remapped	Perfect	NC_000007.14:g.163 16912_16364459del	GRCh38.p12	First Pass	NC_000007.14	Chr7	16,316,912	16,364,459
essv20556275	Remapped	Perfect	NC_000007.14:g.163 16912_16364459del	GRCh38.p12	First Pass	NC_000007.14	Chr7	16,316,912	16,364,459
essv20556269	Submitted genomic		NC_000007.13:g.163 56537_16404084del	GRCh37 (hg19)		NC_000007.13	Chr7	16,356,537	16,404,084
essv20556270	Submitted genomic		NC_000007.13:g.163 56537_16404084del	GRCh37 (hg19)		NC_000007.13	Chr7	16,356,537	16,404,084
essv20556271	Submitted genomic		NC_000007.13:g.163 56537_16404084del	GRCh37 (hg19)		NC_000007.13	Chr7	16,356,537	16,404,084
essv20556272	Submitted genomic		NC_000007.13:g.163 56537_16404084del	GRCh37 (hg19)		NC_000007.13	Chr7	16,356,537	16,404,084
essv20556273	Submitted genomic		NC_000007.13:g.163 56537_16404084del	GRCh37 (hg19)		NC_000007.13	Chr7	16,356,537	16,404,084
essv20556274	Submitted genomic		NC_000007.13:g.163 56537_16404084del	GRCh37 (hg19)		NC_000007.13	Chr7	16,356,537	16,404,084
essv20556275	Submitted genomic		NC_000007.13:g.163 56537_16404084del	GRCh37 (hg19)		NC_000007.13	Chr7	16,356,537	16,404,084

No validation data were submitted for this variant

No clinical assertion data were submitted for this variant

Genotype and/or allele frequency data can be found on dbVar's FTP site.

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