A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3632339



Internal ID7019148
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:61571205..61581681hg38UCSC Ensembl
Innerchr13:61571705..61581181hg38UCSC Ensembl
Outerchr13:61570205..61582681hg38UCSC Ensembl
chr13:62145338..62155814hg19UCSC Ensembl
Innerchr13:62145838..62155314hg19UCSC Ensembl
Outerchr13:62144338..62156814hg19UCSC Ensembl
Cytoband13q21.2
Allele length
AssemblyAllele length
hg3810477
hg1910477
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14766313, essv14766315, essv14766314, essv14766318, essv14766316, essv14766317
SamplesHG02890, HG03548, HG03115, HG03040, HG03055, HG03563
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3632339
Frequency
Sample Size2504
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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