A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3633268



Internal ID6673390
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:96267495..96273665hg38UCSC Ensembl
Innerchr13:96267506..96273654hg38UCSC Ensembl
Outerchr13:96267484..96273676hg38UCSC Ensembl
chr13:96919749..96925919hg19UCSC Ensembl
Innerchr13:96919760..96925908hg19UCSC Ensembl
Outerchr13:96919738..96925930hg19UCSC Ensembl
Cytoband13q32.1
Allele length
AssemblyAllele length
hg386171
hg196171
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14869315, essv14869301, essv14869317, essv14869316, essv14869313, essv14869300, essv14869291, essv14869290, essv14869299, essv14869310, essv14869308, essv14869306, essv14869294, essv14869295, essv14869304, essv14869297, essv14869318, essv14869309, essv14869320, essv14869311, essv14869314, essv14869312, essv14869302, essv14869319, essv14869292, essv14869298, essv14869305, essv14869296, essv14869307, essv14869303, essv14869293
SamplesHG02715, NA19913, HG03279, NA19904, HG02970, HG01353, NA18523, HG02334, NA18511, HG02946, HG03103, NA19467, HG03127, NA18856, HG02861, HG02851, NA19324, NA19190, HG02888, HG02878, HG01989, NA20334, NA19332, HG03132, HG03028, NA19035, HG03499, HG01886, NA19095, NA19113, HG03460
Known GenesHS6ST3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3633268
Frequency
Sample Size2504
Observed Gain0
Observed Loss31
Observed Complex0
Frequencyn/a


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