A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3584649



Internal ID18423433
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:27494808..27498429hg38UCSC Ensembl
Innerchr12:27647741..27651362hg19UCSC Ensembl
Innerchr12:27539008..27542629hg18UCSC Ensembl
Cytoband12p11.23
Allele length
AssemblyAllele length
hg383622
hg193622
hg183622
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9837847
SamplesB4
Known GenesSMCO2
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)esv3584649
Frequency
Sample Size34
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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