A curated catalogue of human genomic structural variation




Variant Details

Variant: esv35048



Internal ID12991084
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:196762018..196932623hg38UCSC Ensembl
Innerchr1:196731148..196901753hg19UCSC Ensembl
Innerchr1:194997771..195168376hg18UCSC Ensembl
Innerchr1:193462805..193633410hg17UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg38170606
hg19170606
hg18170606
hg17170606
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv11e55
Supporting Variantsessv6988223, essv6979704, essv6979705
SamplesNA18611
Known GenesCFHR1, CFHR3, CFHR4
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
CommentsSample level SV from stringent call set
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)esv35048
Frequency
Sample Size771
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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