A curated catalogue of human genomic structural variation




Variant Details

Variant: esv34776



Internal ID12990812
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:196770707..196917640hg38UCSC Ensembl
Innerchr1:196739837..196886770hg19UCSC Ensembl
Innerchr1:195006460..195153393hg18UCSC Ensembl
Innerchr1:193471494..193618427hg17UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg38146934
hg19146934
hg18146934
hg17146934
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv11e55
Supporting Variantsessv6979189, essv6988119
SamplesNA18505
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)esv34776
Frequency
Sample Size771
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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