A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12816565



Internal ID2818381
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3613492
Supporting Variants
SamplesHG01868
Known GenesGUSB, VKORC1L1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12816565
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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