A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3632319



Internal ID7019128
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:60931532..60933065hg38UCSC Ensembl
Innerchr13:60931532..60933065hg38UCSC Ensembl
Outerchr13:60931334..60933252hg38UCSC Ensembl
chr13:61505666..61507199hg19UCSC Ensembl
Innerchr13:61505666..61507199hg19UCSC Ensembl
Outerchr13:61505468..61507386hg19UCSC Ensembl
Cytoband13q21.2
Allele length
AssemblyAllele length
hg381534
hg191534
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14762621, essv14762622, essv14762630, essv14762628, essv14762639, essv14762623, essv14762629, essv14762625, essv14762616, essv14762618, essv14762638, essv14762615, essv14762637, essv14762631, essv14762620, essv14762619, essv14762632, essv14762636, essv14762633, essv14762624, essv14762640, essv14762617, essv14762627, essv14762614, essv14762626, essv14762635, essv14762634
SamplesHG02433, NA19393, NA19314, NA19372, NA19036, HG02427, NA19025, HG02715, HG02879, HG02508, HG03294, HG03382, NA18912, HG03354, HG02332, HG02813, NA19440, HG01190, NA19834, NA19019, NA19473, NA19331, NA19468, HG03401, NA19430, NA19316, NA19346
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3632319
Frequency
Sample Size2504
Observed Gain0
Observed Loss27
Observed Complex0
Frequencyn/a


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