A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14820092



Internal ID6913812
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:82118294..82174415hg38UCSC Ensembl
Innerchr13:82118294..82174415hg38UCSC Ensembl
Outerchr13:82117794..82174915hg38UCSC Ensembl
chr13:82692429..82748550hg19UCSC Ensembl
Innerchr13:82692429..82748550hg19UCSC Ensembl
Outerchr13:82691929..82749050hg19UCSC Ensembl
Cytoband13q31.1
Allele length
AssemblyAllele length
hg3856122
hg1956122
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3632882
Supporting Variants
SamplesNA21115
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14820092
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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