A curated catalogue of human genomic structural variation




Variant Details

Variant: esv34978



Internal ID12644328
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:196764003..197042447hg38UCSC Ensembl
Innerchr1:196733133..197011577hg19UCSC Ensembl
Innerchr1:194999756..195278200hg18UCSC Ensembl
Innerchr1:193464790..193743234hg17UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg38278445
hg19278445
hg18278445
hg17278445
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv12e55
Supporting Variantsessv6986549, essv6978117
SamplesNA11840
Known GenesCFHR1, CFHR2, CFHR3, CFHR4, CFHR5, F13B
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)esv34978
Frequency
Sample Size771
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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