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dbVar

Database of genomic structural variation

esv3692922

Organism: Homo sapiens

Study:estd221 (Palta et al. 2015)
Variant Type:copy number variation
Method Type:SNP array
Submitted on:NCBI36 (hg18)

Variant Calls:5
Validation:Not tested
Clinical Assertions: No
Region Size:19,148

Publication(s):Palta 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: 354 SVs from 66 studies. See in: genome view

Remapped(Score: Perfect):13,065,384-13,084,531

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
esv3692922	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000007.14	Chr7	13,065,384	13,084,531
esv3692922	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000007.13	Chr7	13,105,009	13,124,156
esv3692922	Submitted genomic		NCBI36 (hg18)	Primary Assembly		NC_000007.12	Chr7	13,071,534	13,090,681

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Subject Phenotype	Copy number	Other Calls in this Sample and Study
essv16507252	copy number loss	NA18502	SNP array	Probe signal intensity	Healthy individuals	1	31
essv16508706	copy number loss	NA19222	SNP array	Probe signal intensity	Healthy individuals	1	21
essv16509000	copy number loss	NA18913	SNP array	Probe signal intensity	Healthy individuals	1	24
essv16509133	copy number loss	NA18500	SNP array	Probe signal intensity	Healthy individuals	1	36
essv16509340	copy number loss	NA18522	SNP array	Probe signal intensity	Healthy individuals	1	18

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
essv16507252	Remapped	Perfect	NC_000007.14:g.(?_ 13065384)_(1308453 1_?)del	GRCh38.p12	First Pass	NC_000007.14	Chr7	13,065,384	13,084,531
essv16508706	Remapped	Perfect	NC_000007.14:g.(?_ 13065384)_(1308453 1_?)del	GRCh38.p12	First Pass	NC_000007.14	Chr7	13,065,384	13,084,531
essv16509000	Remapped	Perfect	NC_000007.14:g.(?_ 13065384)_(1308453 1_?)del	GRCh38.p12	First Pass	NC_000007.14	Chr7	13,065,384	13,084,531
essv16509133	Remapped	Perfect	NC_000007.14:g.(?_ 13065384)_(1308453 1_?)del	GRCh38.p12	First Pass	NC_000007.14	Chr7	13,065,384	13,084,531
essv16509340	Remapped	Perfect	NC_000007.14:g.(?_ 13065384)_(1308453 1_?)del	GRCh38.p12	First Pass	NC_000007.14	Chr7	13,065,384	13,084,531
essv16507252	Remapped	Perfect	NC_000007.13:g.(?_ 13105009)_(1312415 6_?)del	GRCh37.p13	First Pass	NC_000007.13	Chr7	13,105,009	13,124,156
essv16508706	Remapped	Perfect	NC_000007.13:g.(?_ 13105009)_(1312415 6_?)del	GRCh37.p13	First Pass	NC_000007.13	Chr7	13,105,009	13,124,156
essv16509000	Remapped	Perfect	NC_000007.13:g.(?_ 13105009)_(1312415 6_?)del	GRCh37.p13	First Pass	NC_000007.13	Chr7	13,105,009	13,124,156
essv16509133	Remapped	Perfect	NC_000007.13:g.(?_ 13105009)_(1312415 6_?)del	GRCh37.p13	First Pass	NC_000007.13	Chr7	13,105,009	13,124,156
essv16509340	Remapped	Perfect	NC_000007.13:g.(?_ 13105009)_(1312415 6_?)del	GRCh37.p13	First Pass	NC_000007.13	Chr7	13,105,009	13,124,156
essv16507252	Submitted genomic		NC_000007.12:g.(?_ 13071534)_(1309068 1_?)del	NCBI36 (hg18)		NC_000007.12	Chr7	13,071,534	13,090,681
essv16508706	Submitted genomic		NC_000007.12:g.(?_ 13071534)_(1309068 1_?)del	NCBI36 (hg18)		NC_000007.12	Chr7	13,071,534	13,090,681
essv16509000	Submitted genomic		NC_000007.12:g.(?_ 13071534)_(1309068 1_?)del	NCBI36 (hg18)		NC_000007.12	Chr7	13,071,534	13,090,681
essv16509133	Submitted genomic		NC_000007.12:g.(?_ 13071534)_(1309068 1_?)del	NCBI36 (hg18)		NC_000007.12	Chr7	13,071,534	13,090,681
essv16509340	Submitted genomic		NC_000007.12:g.(?_ 13071534)_(1309068 1_?)del	NCBI36 (hg18)		NC_000007.12	Chr7	13,071,534	13,090,681

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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