A curated catalogue of human genomic structural variation




Variant Details

Variant: esv34989



Internal ID12991025
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:193661447..193741066hg38UCSC Ensembl
Innerchr1:193630577..193710196hg19UCSC Ensembl
Innerchr1:191897200..191976819hg18UCSC Ensembl
Innerchr1:190362234..190441853hg17UCSC Ensembl
Cytoband1q31.2
Allele length
AssemblyAllele length
hg3879620
hg1979620
hg1879620
hg1779620
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6980937, essv6987880, essv6980936
SamplesNA19152
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)esv34989
Frequency
Sample Size771
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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