A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14865082



Internal ID2278244
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:93615616..93617151hg38UCSC Ensembl
Innerchr13:93615626..93617141hg38UCSC Ensembl
Outerchr13:93615606..93617161hg38UCSC Ensembl
chr13:94267869..94269404hg19UCSC Ensembl
Innerchr13:94267879..94269394hg19UCSC Ensembl
Outerchr13:94267859..94269414hg19UCSC Ensembl
Cytoband13q31.3
Allele length
AssemblyAllele length
hg381536
hg191536
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3633214
Supporting Variants
SamplesHG02032
Known GenesGPC6
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14865082
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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