A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3632505



Internal ID6672629
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:66319329..66325819hg38UCSC Ensembl
Innerchr13:66319329..66325819hg38UCSC Ensembl
Outerchr13:66318921..66326074hg38UCSC Ensembl
chr13:66893461..66899951hg19UCSC Ensembl
Innerchr13:66893461..66899951hg19UCSC Ensembl
Outerchr13:66893053..66900206hg19UCSC Ensembl
Cytoband13q21.32
Allele length
AssemblyAllele length
hg386491
hg196491
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14777490, essv14777505, essv14777509, essv14777500, essv14777511, essv14777495, essv14777498, essv14777496, essv14777510, essv14777501, essv14777503, essv14777513, essv14777497, essv14777512, essv14777499, essv14777506, essv14777494, essv14777489, essv14777502, essv14777514, essv14777493, essv14777508, essv14777492, essv14777507, essv14777488, essv14777504, essv14777491
SamplesHG03130, HG03521, HG03577, NA19107, HG03572, HG02621, HG03091, NA20278, NA19719, HG01950, NA18908, HG02442, HG03291, HG02953, HG03123, NA18879, HG03476, HG01988, HG00128, HG02557, HG03419, HG03063, HG03410, HG03401, NA19316, HG02284, HG02343
Known GenesPCDH9
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3632505
Frequency
Sample Size2504
Observed Gain0
Observed Loss27
Observed Complex0
Frequencyn/a


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