A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9838590



Internal ID18769369
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:160611057..160647530hg38UCSC Ensembl
Innerchr6:161032089..161068562hg19UCSC Ensembl
Innerchr6:160952079..160988552hg18UCSC Ensembl
Cytoband6q26
Allele length
AssemblyAllele length
hg3836474
hg1936474
hg1836474
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3584856
Supporting Variants
SamplesKSM008
Known GenesLPA
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)essv9838590
Frequency
Sample Size34
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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