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dbVar

Database of genomic structural variation

esv3843019

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:1
Validation:Not tested
Clinical Assertions: No
Region Size:48,059

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

Remapped(Score: Perfect):164,732,536-164,780,630

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
esv3843019	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000005.10	Chr5	164,732,554 (-18, +18)	164,780,612 (-18, +18)
esv3843019	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000005.9	Chr5	164,159,560 (-18, +18)	164,207,618 (-18, +18)

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Zygosity	Other Calls in this Sample and Study
essv19843476	deletion	HG01686	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,588

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
essv19843476	Remapped	Perfect	NC_000005.10:g.(16 4732536_164732572) _(164780594_164780 630)del	GRCh38.p12	First Pass	NC_000005.10	Chr5	164,732,554 (-18, +18)	164,780,612 (-18, +18)
essv19843476	Submitted genomic		NC_000005.9:g.(164 159542_164159578)_ (164207600_1642076 36)del	GRCh37 (hg19)		NC_000005.9	Chr5	164,159,560 (-18, +18)	164,207,618 (-18, +18)

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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