A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3890710



Internal ID18838326
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:112958777..113923075hg38UCSC Ensembl
Outerchr5:112940950..113923075hg38UCSC Ensembl
Innerchr5:112294474..113258772hg19UCSC Ensembl
Outerchr5:112276647..113258772hg19UCSC Ensembl
Innerchr5:112322373..113286671hg18UCSC Ensembl
Outerchr5:112304546..113286671hg18UCSC Ensembl
Cytoband5q22.2
Allele length
AssemblyAllele length
hg38982126
hg19982126
hg18982126
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv25789088, essv25790051
Samples
Known GenesDCP2, MCC, TSSK1B, YTHDC2
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
Comments
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)esv3890710
Frequency
Sample Size3017
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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