A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14811364



Internal ID4145548
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:78912931..78922270hg38UCSC Ensembl
Innerchr13:78912963..78922239hg38UCSC Ensembl
Outerchr13:78912900..78922302hg38UCSC Ensembl
chr13:79487066..79496405hg19UCSC Ensembl
Innerchr13:79487098..79496374hg19UCSC Ensembl
Outerchr13:79487035..79496437hg19UCSC Ensembl
Cytoband13q31.1
Allele length
AssemblyAllele length
hg389340
hg199340
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3632809
Supporting Variants
SamplesHG03753
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14811364
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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