A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25791105



Internal ID18829277
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:19470582..20214665hg38UCSC Ensembl
Innerchr3:19512074..20256157hg19UCSC Ensembl
Innerchr3:19487078..20231161hg18UCSC Ensembl
Cytoband3p24.3
Allele length
AssemblyAllele length
hg38744084
hg19744084
hg18744084
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3893667
Supporting Variants
Samples
Known GenesEFHB, KAT2B, KCNH8, PP2D1, RAB5A, SGOL1, SGOL1-AS1
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=138
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25791105
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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