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dbVar

Database of genomic structural variation

esv3639795

Organism: Homo sapiens

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

Variant Calls:1
Validation:Not tested
Clinical Assertions: No
Region Size:8,255

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: 162 SVs from 34 studies. See in: genome view

Remapped(Score: Perfect):4,812,333-4,820,874

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
esv3639795	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000017.11	Chr17	4,812,578 (-245, +0)	4,820,832 (-0, +42)
esv3639795	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000017.10	Chr17	4,715,873 (-245, +0)	4,724,127 (-0, +42)

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Zygosity	Other Calls in this Sample and Study
essv15595173	deletion	SAMN01036757	Sequencing	Read depth and paired-end mapping	Heterozygous	3,215

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
essv15595173	Remapped	Perfect	NC_000017.11:g.(48 12333_4812578)_(48 20832_4820874)del	GRCh38.p12	First Pass	NC_000017.11	Chr17	4,812,578 (-245, +0)	4,820,832 (-0, +42)
essv15595173	Submitted genomic		NC_000017.10:g.(47 15628_4715873)_(47 24127_4724169)del	GRCh37 (hg19)		NC_000017.10	Chr17	4,715,873 (-245, +0)	4,724,127 (-0, +42)

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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