A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3584962



Internal ID18770432
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:170178516..170217855hg38UCSC Ensembl
Innerchr2:171035026..171074365hg19UCSC Ensembl
Innerchr2:170743272..170782611hg18UCSC Ensembl
Cytoband2q31.1
Allele length
AssemblyAllele length
hg3839340
hg1939340
hg1839340
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9838607
SamplesKSF005
Known GenesMYO3B
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)esv3584962
Frequency
Sample Size34
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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