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dbVar

Database of genomic structural variation

esv3838649

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:4
Validation:Not tested
Clinical Assertions: No
Region Size:23,404

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: 533 SVs from 65 studies. See in: genome view

Remapped(Score: Perfect):187,450,518-187,473,921

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
esv3838649	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000004.12	Chr4	187,450,518	187,473,921
esv3838649	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000004.11	Chr4	188,371,672	188,395,075

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Zygosity	Other Calls in this Sample and Study
essv19309394	copy number loss	HG03012	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,515
essv19309395	copy number loss	HG03771	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,588
essv19309396	copy number gain	HG02232	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,295
essv19309397	copy number gain	NA07051	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,300

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
essv19309394	Remapped	Perfect	NC_000004.12:g.187 450518_187473921de l	GRCh38.p12	First Pass	NC_000004.12	Chr4	187,450,518	187,473,921
essv19309395	Remapped	Perfect	NC_000004.12:g.187 450518_187473921de l	GRCh38.p12	First Pass	NC_000004.12	Chr4	187,450,518	187,473,921
essv19309396	Remapped	Perfect	NC_000004.12:g.187 450518_187473921du p	GRCh38.p12	First Pass	NC_000004.12	Chr4	187,450,518	187,473,921
essv19309397	Remapped	Perfect	NC_000004.12:g.187 450518_187473921du p	GRCh38.p12	First Pass	NC_000004.12	Chr4	187,450,518	187,473,921
essv19309394	Submitted genomic		NC_000004.11:g.188 371672_188395075de l	GRCh37 (hg19)		NC_000004.11	Chr4	188,371,672	188,395,075
essv19309395	Submitted genomic		NC_000004.11:g.188 371672_188395075de l	GRCh37 (hg19)		NC_000004.11	Chr4	188,371,672	188,395,075
essv19309396	Submitted genomic		NC_000004.11:g.188 371672_188395075du p	GRCh37 (hg19)		NC_000004.11	Chr4	188,371,672	188,395,075
essv19309397	Submitted genomic		NC_000004.11:g.188 371672_188395075du p	GRCh37 (hg19)		NC_000004.11	Chr4	188,371,672	188,395,075

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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