A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3631692



Internal ID7018500
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:31151338..31209262hg38UCSC Ensembl
chr13:31725475..31783399hg19UCSC Ensembl
Cytoband13q12.3
Allele length
AssemblyAllele length
hg3857925
hg1957925
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14682704
SamplesNA20827
Known GenesB3GALTL, HSPH1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3631692
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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