A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25789623



Internal ID19170702
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:81278583..82021277hg38UCSC Ensembl
Innerchr2:81505707..82248401hg19UCSC Ensembl
Innerchr2:81359218..82101912hg18UCSC Ensembl
Cytoband2p12
Allele length
AssemblyAllele length
hg38742695
hg19742695
hg18742695
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3892803
Supporting Variants
Samples
Known Genes
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=114
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25789623
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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