A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25788129



Internal ID18821968
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:240707925..240760466hg38UCSC Ensembl
Innerchr2:241647342..241699883hg19UCSC Ensembl
Innerchr2:241296015..241348556hg18UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg3852542
hg1952542
hg1852542
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3893577
Supporting Variants
Samples
Known GenesKIF1A
MethodSNP array
Analysis
PlatformIllumina Human OmniExpress
CommentsNumber of probes=19
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25788129
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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