A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3584845



Internal ID18770315
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:51574636..51614567hg38UCSC Ensembl
Innerchr6:51439434..51479365hg19UCSC Ensembl
Innerchr6:51547393..51587324hg18UCSC Ensembl
Cytoband6p12.2
Allele length
AssemblyAllele length
hg3839932
hg1939932
hg1839932
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9838622
SamplesOA003
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)esv3584845
Frequency
Sample Size34
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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