A curated catalogue of human genomic structural variation




Variant Details

Variant: esv34299



Internal ID12990338
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 Variantsessv6989083, essv6979308, essv6988150
SamplesNA18526
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)esv34299
Frequency
Sample Size771
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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