A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3631625



Internal ID7018434
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:27936713..27950492hg38UCSC Ensembl
chr13:28510850..28524629hg19UCSC Ensembl
Cytoband13q12.2
Allele length
AssemblyAllele length
hg3813780
hg1913780
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14678301, essv14678305, essv14678302, essv14678300, essv14678304, essv14678303
SamplesHG00337, HG00356, HG00335, HG00266, HG01612, HG00180
Known GenesATP5EP2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3631625
Frequency
Sample Size2504
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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