A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6980209



Internal ID12981449
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:195905777..196050314hg38UCSC Ensembl
Innerchr1:195874907..196019444hg19UCSC Ensembl
Innerchr1:194141530..194286067hg18UCSC Ensembl
Innerchr1:192606564..192751101hg17UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg38144538
hg19144538
hg18144538
hg17144538
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv35094
Supporting Variants
SamplesNA18969
Known Genes
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6980209
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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