A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6982769



Internal ID12975519
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:104311687..104520065hg38UCSC Ensembl
Innerchr14:104778024..104986402hg19UCSC Ensembl
Innerchr14:103849069..104057447hg18UCSC Ensembl
Innerchr14:103849069..104057447hg17UCSC Ensembl
Cytoband14q32.33
Allele length
AssemblyAllele length
hg38208379
hg19208379
hg18208379
hg17208379
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2751159
Supporting Variants
SamplesBEC_590
Known Genes
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6982769
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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