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dbVar

Database of genomic structural variation

esv4011099

Organism: Homo sapiens

Study:estd236 (Kurtas et al. 2018)
Variant Type:complex chromosomal rearrangement
Method Type:Oligo aCGH, PCR, Sequencing
Submitted on:GRCh37 (hg19)

Variant Calls:2
Validation:Not tested
Clinical Assertions: No
Region Size:13

Publication(s):Kurtas et al. 2018

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: 110 SVs from 21 studies. See in: genome view

Remapped(Score: Perfect):40,634,664-40,634,676

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop	strand
esv4011099	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000015.10	Chr15	40,634,664	40,634,676	+
esv4011099	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000015.9	Chr15	40,926,862	40,926,874	+

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Copy number	Zygosity	Other Calls in this Sample and Study
essv26067112	interchromosomal translocation	1960	Oligo aCGH, PCR, Sequencing	Manual observation, Merging, Read depth and paired-end mapping	2	Heterozygous	7
essv26067107	interchromosomal translocation	1960	Oligo aCGH, PCR, Sequencing	Manual observation, Merging, Read depth and paired-end mapping	2	Heterozygous	7

Variant Call Placement Information

Variant Call ID	Placement Type	Score	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop	strand
essv26067112	Remapped	Perfect	GRCh38.p12	First Pass	NC_000006.12	Chr6	83,975,074	83,975,074	+
essv26067107	Remapped	Perfect	GRCh38.p12	First Pass	NC_000006.12	Chr6	83,975,175	83,975,175	+
essv26067107	Remapped	Perfect	GRCh38.p12	First Pass	NC_000015.10	Chr15	40,634,664	40,634,664	+
essv26067112	Remapped	Perfect	GRCh38.p12	First Pass	NC_000015.10	Chr15	40,634,676	40,634,676	+
essv26067112	Submitted genomic		GRCh37 (hg19)		NC_000006.11	Chr6	84,684,793	84,684,793	+
essv26067107	Submitted genomic		GRCh37 (hg19)		NC_000006.11	Chr6	84,684,894	84,684,894	+
essv26067107	Submitted genomic		GRCh37 (hg19)		NC_000015.9	Chr15	40,926,862	40,926,862	+
essv26067112	Submitted genomic		GRCh37 (hg19)		NC_000015.9	Chr15	40,926,874	40,926,874	+

No validation data were submitted for this variant

No clinical assertion data were submitted for this variant

No genotype data were submitted for this variant

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