A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25787759



Internal ID19171644
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:52801998..53119747hg38UCSC Ensembl
Innerchr8:53714558..54032307hg19UCSC Ensembl
Innerchr8:53877111..54194860hg18UCSC Ensembl
Cytoband8q11.23
Allele length
AssemblyAllele length
hg38317750
hg19317750
hg18317750
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3891397
Supporting Variants
Samples
Known GenesNPBWR1
MethodSNP array
Analysis
PlatformIllumina Human OmniExpress
CommentsNumber of probes=72
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25787759
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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