A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3892770



Internal ID19183590
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:78806791..79322248hg38UCSC Ensembl
Outerchr2:78806791..79322248hg38UCSC Ensembl
Innerchr2:79033917..79549374hg19UCSC Ensembl
Outerchr2:79033917..79549374hg19UCSC Ensembl
Innerchr2:78887425..79402882hg18UCSC Ensembl
Outerchr2:78887425..79402882hg18UCSC Ensembl
Cytoband2p12
Allele length
AssemblyAllele length
hg38515458
hg19515458
hg18515458
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv25789983
Samples
Known GenesREG1A, REG1B, REG1P, REG3A, REG3G
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
Comments
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)esv3892770
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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