A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25788275



Internal ID19178428
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:52828005..53126161hg38UCSC Ensembl
Innerchr8:53740565..54038721hg19UCSC Ensembl
Innerchr8:53903118..54201274hg18UCSC Ensembl
Cytoband8q11.23
Allele length
AssemblyAllele length
hg38298157
hg19298157
hg18298157
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=68
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25788275
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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