A curated catalogue of human genomic structural variation




Variant Details

Variant: esv17765



Internal ID11381684
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:81912654..81951692hg38UCSC Ensembl
Innerchr9:84527569..84566607hg19UCSC Ensembl
Innerchr9:83717389..83756427hg18UCSC Ensembl
Cytoband9q21.32
Allele length
AssemblyAllele length
hg3839039
hg1939039
hg1839039
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv23543
Supporting Variantsessv56789, essv59987, essv80005, essv61444, essv52577, essv56957, essv69682, essv74068, essv46793, essv53472
SamplesNA11995, NA18861, NA18508, NA12156, NA12044, NA11993, NA12239, NA18523, NA12006, NA12776
Known GenesSPATA31D3, SPATA31D4, SPATA31D5P
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)esv17765
Frequency
Sample Size40
Observed Gain3
Observed Loss7
Observed Complex0
Frequencyn/a


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