A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25788848



Internal ID18826785
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:21615265..21795198hg38UCSC Ensembl
Innerchr8:21472776..21652710hg19UCSC Ensembl
Innerchr8:21517056..21708656hg18UCSC Ensembl
Cytoband8p21.3
Allele length
AssemblyAllele length
hg38179934
hg19179935
hg18191601
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3891375
Supporting Variants
Samples
Known GenesGFRA2
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=44
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25788848
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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