A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3584761



Internal ID18770231
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:78317894..79203502hg38UCSC Ensembl
Innerchr2:78545020..79430628hg19UCSC Ensembl
Innerchr2:78398528..79284136hg18UCSC Ensembl
Cytoband2p12
Allele length
AssemblyAllele length
hg38885609
hg19885609
hg18885609
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9837943, essv9837944
SamplesKSF005, OA072
Known GenesREG1A, REG1B, REG1P, REG3A, REG3G
MethodSNP array
AnalysisWe applied stringent filtering criteria such that CNV had to be a minimum of 1 kb and span 5 consecutive probes, and be detected by at least 2 out of the 3 algorithms. In addition we excluded CNVs that were on the X and Y-chromosomes, or approximately 300 kb adjacent to the centromeres and telomeres.
PlatformAffymetrix Genome-Wide Human SNP Array 6.0
Comments
ReferenceMokhtar_et_al_2014
Pubmed ID24956385
Accession Number(s)esv3584761
Frequency
Sample Size34
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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