A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3613492



Internal ID6653701
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:65946577..66001473hg38UCSC Ensembl
Innerchr7:65946727..66001323hg38UCSC Ensembl
Outerchr7:65946427..66001623hg38UCSC Ensembl
chr7:65411564..65466460hg19UCSC Ensembl
Innerchr7:65411714..65466310hg19UCSC Ensembl
Outerchr7:65411414..65466610hg19UCSC Ensembl
Cytoband7q11.21
Allele length
AssemblyAllele length
hg3854897
hg1954897
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12816569, essv12816565, essv12816567, essv12816563, essv12816564, essv12816570, essv12816566, essv12816571, essv12816568
SamplesHG02521, NA18916, NA20518, HG02067, NA12829, HG02398, HG01868, HG00759, HG00978
Known GenesGUSB, VKORC1L1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3613492
Frequency
Sample Size2504
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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