A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14706623



Internal ID912615
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:42094331..42106887hg38UCSC Ensembl
Innerchr13:42094481..42106737hg38UCSC Ensembl
Outerchr13:42094181..42107037hg38UCSC Ensembl
chr13:42668467..42681023hg19UCSC Ensembl
Innerchr13:42668617..42680873hg19UCSC Ensembl
Outerchr13:42668317..42681173hg19UCSC Ensembl
Cytoband13q14.11
Allele length
AssemblyAllele length
hg3812557
hg1912557
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3631889
Supporting Variants
SamplesHG00536
Known GenesDGKH
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14706623
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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