A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3631694



Internal ID7018502
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:31238579..31265709hg38UCSC Ensembl
chr13:31812716..31839846hg19UCSC Ensembl
Cytoband13q12.3
Allele length
AssemblyAllele length
hg3827131
hg1927131
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14682706, essv14682707
SamplesHG03558, NA20827
Known GenesB3GALTL
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3631694
Frequency
Sample Size2504
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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