A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv742n54



Internal ID22768637
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:196780615..196818812hg38UCSC Ensembl
chr1:196749745..196787942hg19UCSC Ensembl
chr1:195016368..195054565hg18UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg3838198
hg1938198
hg1838198
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv548792, nsv548796
Samples
Known GenesCFHR3
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv742n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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