A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9838856



Internal ID18769292
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:28047590..28050693hg38UCSC Ensembl
Innerchr9:28047588..28050691hg19UCSC Ensembl
Innerchr9:28037588..28040691hg18UCSC Ensembl
Cytoband9p21.1
Allele length
AssemblyAllele length
hg383104
hg193104
hg183104
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3584905
Supporting Variants
SamplesKSM006
Known GenesLINGO2
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)essv9838856
Frequency
Sample Size34
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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