A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25788499



Internal ID19167591
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:31165091..31214374hg38UCSC Ensembl
Innerchr2:31387957..31437240hg19UCSC Ensembl
Innerchr2:31241461..31290744hg18UCSC Ensembl
Cytoband2p23.1
Allele length
AssemblyAllele length
hg3849284
hg1949284
hg1849284
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3891692
Supporting Variants
Samples
Known GenesCAPN14
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=30
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25788499
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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