A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3631889



Internal ID7018698
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14706623, essv14706624
SamplesHG00536, HG00684
Known GenesDGKH
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3631889
Frequency
Sample Size2504
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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