A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25788040



Internal ID18817375
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:32107275..32159410hg38UCSC Ensembl
Innerchr5:32107381..32159516hg19UCSC Ensembl
Innerchr5:32143138..32195273hg18UCSC Ensembl
Cytoband5p13.3
Allele length
AssemblyAllele length
hg3852136
hg1952136
hg1852136
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3894170
Supporting Variants
Samples
Known GenesGOLPH3, PDZD2
MethodSNP array
Analysis
PlatformIllumina Human OmniExpress
CommentsNumber of probes=25
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25788040
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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