A curated catalogue of human genomic structural variation




Variant Details

Variant: esv34855



Internal ID12990891
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:196854213..196917640hg38UCSC Ensembl
Innerchr1:196823343..196886770hg19UCSC Ensembl
Innerchr1:195089966..195153393hg18UCSC Ensembl
Innerchr1:193555000..193618427hg17UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg3863428
hg1963428
hg1863428
hg1763428
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6988279, essv6979965, essv6979964
SamplesNA18870
Known GenesCFHR4
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)esv34855
Frequency
Sample Size771
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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