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dbVar

Database of genomic structural variation

esv3642232

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:123,406

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: 431 SVs from 49 studies. See in: genome view

Remapped(Score: Perfect):36,534,951-36,658,356

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
esv3642232	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000018.10	Chr18	36,534,951	36,658,356
esv3642232	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000018.9	Chr18	34,114,914	34,238,319

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Zygosity	Other Calls in this Sample and Study
essv15842457	copy number loss	SAMN00801051	Sequencing	Read depth and paired-end mapping	Heterozygous	2,792
essv15842458	copy number gain	SAMN00001654	Sequencing	Read depth and paired-end mapping	Heterozygous	2,454

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
essv15842457	Remapped	Perfect	NC_000018.10:g.365 34951_36658356del	GRCh38.p12	First Pass	NC_000018.10	Chr18	36,534,951	36,658,356
essv15842458	Remapped	Perfect	NC_000018.10:g.365 34951_36658356dup	GRCh38.p12	First Pass	NC_000018.10	Chr18	36,534,951	36,658,356
essv15842457	Submitted genomic		NC_000018.9:g.3411 4914_34238319del	GRCh37 (hg19)		NC_000018.9	Chr18	34,114,914	34,238,319
essv15842458	Submitted genomic		NC_000018.9:g.3411 4914_34238319dup	GRCh37 (hg19)		NC_000018.9	Chr18	34,114,914	34,238,319

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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