A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3891692



Internal ID19186088
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:31178322..31204216hg38UCSC Ensembl
Outerchr2:31165091..31214374hg38UCSC Ensembl
Innerchr2:31401188..31427082hg19UCSC Ensembl
Outerchr2:31387957..31437240hg19UCSC Ensembl
Innerchr2:31254692..31280586hg18UCSC Ensembl
Outerchr2:31241461..31290744hg18UCSC Ensembl
Cytoband2p23.1
Allele length
AssemblyAllele length
hg3849284
hg1949284
hg1849284
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv25788031, essv25790591, essv25788499, essv25790035
Samples
Known GenesCAPN14
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
Illumina Human OmniExpress
Comments
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)esv3891692
Frequency
Sample Size3017
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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