A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25788031



Internal ID19167082
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:31165091..31204216hg38UCSC Ensembl
Innerchr2:31387957..31427082hg19UCSC Ensembl
Innerchr2:31241461..31280586hg18UCSC Ensembl
Cytoband2p23.1
Allele length
AssemblyAllele length
hg3839126
hg1939126
hg1839126
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 Human OmniExpress
CommentsNumber of probes=14
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25788031
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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