A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2750822



Internal ID12637688
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:196762018..197024843hg38UCSC Ensembl
Innerchr1:196731148..196993973hg19UCSC Ensembl
Innerchr1:194997771..195260596hg18UCSC Ensembl
Innerchr1:193462805..193725630hg17UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg38262826
hg19262826
hg18262826
hg17262826
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv12e55
Supporting Variantsessv6984674, essv6987645, essv6984673
SamplesSPC_165
Known GenesCFHR1, CFHR2, CFHR3, CFHR4, CFHR5
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)esv2750822
Frequency
Sample Size771
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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