A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25790051



Internal ID18833304
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:112940950..113923075hg38UCSC Ensembl
Innerchr5:112276647..113258772hg19UCSC Ensembl
Innerchr5:112304546..113286671hg18UCSC Ensembl
Cytoband5q22.2
Allele length
AssemblyAllele length
hg38982126
hg19982126
hg18982126
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3890710
Supporting Variants
Samples
Known GenesDCP2, MCC, TSSK1B, YTHDC2
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=254
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25790051
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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