A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14834943



Internal ID4090117
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3633067
Supporting Variants
SamplesHG03716
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14834943
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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