A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25787888



Internal ID18830618
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:167379314..167446554hg38UCSC Ensembl
Innerchr1:167348551..167415791hg19UCSC Ensembl
Innerchr1:165615175..165682415hg18UCSC Ensembl
Cytoband1q24.2
Allele length
AssemblyAllele length
hg3867241
hg1967241
hg1867241
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3890749
Supporting Variants
Samples
Known GenesCD247, POU2F1
MethodSNP array
Analysis
PlatformIllumina Human OmniExpress
CommentsNumber of probes=15
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25787888
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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