A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5084345



Internal ID8097782
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:196753917..196846661hg38UCSC Ensembl
Innerchr1:196723047..196815791hg19UCSC Ensembl
Innerchr1:194989670..195082414hg18UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg3892745
hg1992745
hg1892745
Variant TypeCNV deletion
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2421560
Supporting Variants
SamplesNA10854
Known GenesCFHR1, CFHR3
MethodSNP array
AnalysisTo assess copy number variation we merged and analysed the probe level intensity data from both the Affymetrix and Illumina arrays.
PlatformNot specified
Comments
ReferenceAltshuler_et_al_2010
Pubmed ID20811451
Accession Number(s)essv5084345
Frequency
Sample Size1184
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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