A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9838115



Internal ID18422565
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:127937888..127945252hg38UCSC Ensembl
Innerchr8:128950134..128957498hg19UCSC Ensembl
Innerchr8:129019316..129026680hg18UCSC Ensembl
Cytoband8q24.21
Allele length
AssemblyAllele length
hg387365
hg197365
hg187365
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3584895
Supporting Variants
SamplesKSM003
Known GenesPVT1
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)essv9838115
Frequency
Sample Size34
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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