A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3616500



Internal ID6656696
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:17771011..17959017hg38UCSC Ensembl
Innerchr8:17771161..17958867hg38UCSC Ensembl
Outerchr8:17770861..17959167hg38UCSC Ensembl
chr8:17628520..17816526hg19UCSC Ensembl
Innerchr8:17628670..17816376hg19UCSC Ensembl
Outerchr8:17628370..17816676hg19UCSC Ensembl
Cytoband8p22
Allele length
AssemblyAllele length
hg38188007
hg19188007
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv13128912
SamplesNA12843
Known GenesFGL1, MTUS1, PCM1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3616500
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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