A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv12e55



Internal ID20126491
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:196762018..197042447hg38UCSC Ensembl
chr1:196731148..197011577hg19UCSC Ensembl
chr1:194997771..195278200hg18UCSC Ensembl
chr1:193462805..193743234hg17UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg38280430
hg19280430
hg18280430
hg17280430
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2750822, esv34978
SamplesNA11840, SPC_165
Known GenesCFHR1, CFHR2, CFHR3, CFHR4, CFHR5, F13B
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Affymetrix Mapping 250K Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)dgv12e55
Frequency
Sample Size771
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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