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dbVar

Database of genomic structural variation

esv3640384

Organism: Homo sapiens

Study:estd214 (1000 Genomes Consortium Phase 3)
Variant Type:copy number variation
Method Type:Sequencing
Submitted on:GRCh37

Variant Calls:2
Validation:Not tested
Clinical Assertions: No
Region Size:20,073

Publication(s):1000 Genomes Project Consortium et al. 2015

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: 159 SVs from 32 studies. See in: genome view

Remapped(Score: Perfect):32,525,454-32,545,526

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
esv3640384	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000017.11	Chr17	32,525,454	32,545,526
esv3640384	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000017.10	Chr17	30,852,472	30,872,544

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Zygosity	Other Calls in this Sample and Study
essv15659298	deletion	SAMN00004622	Sequencing	Read depth and paired-end mapping	Heterozygous	2,214
essv15659299	deletion	SAMN00001039	Sequencing	Read depth and paired-end mapping	Heterozygous	2,863

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
essv15659298	Remapped	Perfect	NC_000017.11:g.325 25454_32545526del	GRCh38.p12	First Pass	NC_000017.11	Chr17	32,525,454	32,545,526
essv15659299	Remapped	Perfect	NC_000017.11:g.325 25454_32545526del	GRCh38.p12	First Pass	NC_000017.11	Chr17	32,525,454	32,545,526
essv15659298	Submitted genomic		NC_000017.10:g.308 52472_30872544del	GRCh37 (hg19)		NC_000017.10	Chr17	30,852,472	30,872,544
essv15659299	Submitted genomic		NC_000017.10:g.308 52472_30872544del	GRCh37 (hg19)		NC_000017.10	Chr17	30,852,472	30,872,544

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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