A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv11e55



Internal ID22760961
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:196762018..196932623hg38UCSC Ensembl
chr1:196731148..196901753hg19UCSC Ensembl
chr1:194997771..195168376hg18UCSC Ensembl
chr1:193462805..193633410hg17UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg38170606
hg19170606
hg18170606
hg17170606
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv34753, esv35037, esv34652, esv35048, esv34607, esv34289, esv34299, esv34776, esv34943
SamplesNA18526, NA18563, NA19131, NA19130, NA18611, NA18956, NA18503, NA19003, NA18505
Known GenesCFHR1, CFHR3, CFHR4
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)dgv11e55
Frequency
Sample Size771
Observed Gain0
Observed Loss22
Observed Complex0
Frequencyn/a


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