A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3633067



Internal ID7019877
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:88527831..88534278hg38UCSC Ensembl
Innerchr13:88527831..88534278hg38UCSC Ensembl
Outerchr13:88527612..88534496hg38UCSC Ensembl
chr13:89180086..89186533hg19UCSC Ensembl
Innerchr13:89180086..89186533hg19UCSC Ensembl
Outerchr13:89179867..89186751hg19UCSC Ensembl
Cytoband13q31.2
Allele length
AssemblyAllele length
hg386448
hg196448
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14834942, essv14834943
SamplesHG03680, HG03716
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3633067
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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