A curated catalogue of human genomic structural variation




Variant Details

Variant: esv34863



Internal ID12990899
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:193694146..193741066hg38UCSC Ensembl
Innerchr1:193663276..193710196hg19UCSC Ensembl
Innerchr1:191929899..191976819hg18UCSC Ensembl
Innerchr1:190394933..190441853hg17UCSC Ensembl
Cytoband1q31.2
Allele length
AssemblyAllele length
hg3846921
hg1946921
hg1846921
hg1746921
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv10e55
Supporting Variantsessv6980954, essv6987883
SamplesNA19154
Known Genes
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Affymetrix Mapping 250K Sty2 SNP Array
CommentsSample level SV from stringent call set
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)esv34863
Frequency
Sample Size771
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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