A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6982177



Internal ID12626619
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:81869885..81959409hg38UCSC Ensembl
Innerchr5:81165704..81255228hg19UCSC Ensembl
Innerchr5:81201460..81290984hg18UCSC Ensembl
Innerchr5:81201460..81290984hg17UCSC Ensembl
Cytoband5q14.1
Allele length
AssemblyAllele length
hg3889525
hg1989525
hg1889525
hg1789525
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2752082
Supporting Variants
SamplesBEC_40
Known Genes
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6982177
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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