A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9838494



Internal ID18769347
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:75377244..75405998hg38UCSC Ensembl
Innerchr2:75604370..75633124hg19UCSC Ensembl
Innerchr2:75457878..75486632hg18UCSC Ensembl
Cytoband2p12
Allele length
AssemblyAllele length
hg3828755
hg1928755
hg1828755
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3584957
Supporting Variants
SamplesKSM008
Known Genes
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)essv9838494
Frequency
Sample Size34
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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