A curated catalogue of human genomic structural variation




Variant Details

Variant: esv9800



Internal ID11047239
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:54842827..54867750hg38UCSC Ensembl
Innerchr19:55354282..55379205hg19UCSC Ensembl
Innerchr19:60046094..60071017hg18UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg3824924
hg1924924
hg1824924
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv26630
Supporting Variantsessv54232, essv80816
SamplesNA11995, NA19099
Known GenesKIR2DS4, KIR3DL2
MethodOligo aCGH
AnalysisSegment log2 ratios from each sample. This was done running the GADA algorithm (Pique-Regi et al., 2008) using the options "-M 10 -T 10 -a 2.5". Filter non-CNV segments using intensity thresholds. Merge remaining CNV "calls" within each sample. Adjacent calls of the same direction (gain or loss) are merged if both: the distance between calls is less than 10kb, and the distance between calls is less than 10% of the size of the largest of the two calls.
PlatformSanger H. Sapiens 42mCGH Array 5781_53 726K v1
Comments
ReferenceConrad_et_al_2009
Pubmed ID19812545
Accession Number(s)esv9800
Frequency
Sample Size40
Observed Gain1
Observed Loss1
Observed Complex0
Frequencyn/a


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