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dbVar

Database of genomic structural variation

esv4011096

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:3
Validation:Not tested
Clinical Assertions: No
Region Size:1,570,467

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: 4932 SVs from 106 studies. See in: genome view

Remapped(Score: Perfect):84,961,176-86,531,642

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop	strand
esv4011096	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000014.9	Chr14	84,961,176	86,531,642	+
esv4011096	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000014.8	Chr14	85,427,520	86,997,986	+

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Copy number	Zygosity	Other Calls in this Sample and Study
essv26067105	interchromosomal translocation	286	Oligo aCGH, PCR, Sequencing	Manual observation, Merging, Read depth and paired-end mapping	2	Heterozygous	5
essv26067130	interchromosomal translocation	286	Oligo aCGH, PCR, Sequencing	Manual observation, Merging, Read depth and paired-end mapping	2	Heterozygous	5
essv26067133	intrachromosomal translocation	286	Oligo aCGH, PCR, Sequencing	Manual observation, Merging, Read depth and paired-end mapping	2	Heterozygous	5

Variant Call Placement Information

Variant Call ID	Placement Type	Score	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop	strand
essv26067105	Remapped	Perfect	GRCh38.p12	First Pass	NC_000006.12	Chr6	91,052,821	91,052,821	+
essv26067130	Remapped	Perfect	GRCh38.p12	First Pass	NC_000006.12	Chr6	91,052,835	91,052,835	+
essv26067133	Remapped	Perfect	GRCh38.p12	First Pass	NC_000014.9	Chr14	84,961,176	84,961,176	+
essv26067130	Remapped	Perfect	GRCh38.p12	First Pass	NC_000014.9	Chr14	84,961,312	84,961,312	-
essv26067133	Remapped	Perfect	GRCh38.p12	First Pass	NC_000014.9	Chr14	85,487,434	85,487,434	-
essv26067105	Remapped	Perfect	GRCh38.p12	First Pass	NC_000014.9	Chr14	86,531,642	86,531,642	+
essv26067105	Submitted genomic		GRCh37 (hg19)		NC_000006.11	Chr6	91,762,539	91,762,539	+
essv26067130	Submitted genomic		GRCh37 (hg19)		NC_000006.11	Chr6	91,762,553	91,762,553	+
essv26067133	Submitted genomic		GRCh37 (hg19)		NC_000014.8	Chr14	85,427,520	85,427,520	+
essv26067130	Submitted genomic		GRCh37 (hg19)		NC_000014.8	Chr14	85,427,656	85,427,656	-
essv26067133	Submitted genomic		GRCh37 (hg19)		NC_000014.8	Chr14	85,953,778	85,953,778	-
essv26067105	Submitted genomic		GRCh37 (hg19)		NC_000014.8	Chr14	86,997,986	86,997,986	+

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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