A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25787963



Internal ID19171806
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:82124176..82946696hg38UCSC Ensembl
Innerchr8:83036411..83858931hg19UCSC Ensembl
Innerchr8:83198966..84021486hg18UCSC Ensembl
Cytoband8q21.13
Allele length
AssemblyAllele length
hg38822521
hg19822521
hg18822521
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3891423
Supporting Variants
Samples
Known Genes
MethodSNP array
Analysis
PlatformIllumina Human OmniExpress
CommentsNumber of probes=120
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25787963
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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