A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25792743



Internal ID18823317
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:416226..503349hg38UCSC Ensembl
Innerchr4:410015..497138hg19UCSC Ensembl
Innerchr4:400015..487138hg18UCSC Ensembl
Cytoband4p16.3
Allele length
AssemblyAllele length
hg3887124
hg1987124
hg1887124
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3893859
Supporting Variants
Samples
Known GenesABCA11P, PIGG, ZNF721
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=16
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25792743
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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