A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25792487



Internal ID19181111
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:52798886..53126161hg38UCSC Ensembl
Innerchr8:53711446..54038721hg19UCSC Ensembl
Innerchr8:53873999..54201274hg18UCSC Ensembl
Cytoband8q11.23
Allele length
AssemblyAllele length
hg38327276
hg19327276
hg18327276
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 HumanHap 610
CommentsNumber of probes=88
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25792487
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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