A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25788865



Internal ID19171451
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:122257902..122540715hg38UCSC Ensembl
Innerchr2:123015478..123298291hg19UCSC Ensembl
Innerchr2:122731948..123014761hg18UCSC Ensembl
Cytoband2q14.3
Allele length
AssemblyAllele length
hg38282814
hg19282814
hg18282814
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3893237
Supporting Variants
Samples
Known Genes
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=62
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25788865
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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