A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25787992



Internal ID18821728
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:6508098..6604281hg38UCSC Ensembl
Innerchr8:6365619..6461802hg19UCSC Ensembl
Innerchr8:6353027..6449210hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg3896184
hg1996184
hg1896184
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3891314
Supporting Variants
Samples
Known GenesANGPT2, MCPH1
MethodSNP array
Analysis
PlatformIllumina Human OmniExpress
CommentsNumber of probes=77
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25787992
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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