A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv13e55



Internal ID22760963
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:196764003..196932623hg38UCSC Ensembl
chr1:196733133..196901753hg19UCSC Ensembl
chr1:194999756..195168376hg18UCSC Ensembl
chr1:193464790..193633410hg17UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg38168621
hg19168621
hg18168621
hg17168621
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2750825, esv2750824, esv2750823
SamplesSPC_143, BEC_594, BEC_438
Known GenesCFHR1, CFHR3, CFHR4
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)dgv13e55
Frequency
Sample Size771
Observed Gain8
Observed Loss0
Observed Complex0
Frequencyn/a


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