A curated catalogue of human genomic structural variation




Variant Details

Variant: esv26189



Internal ID11043422
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:45496108..45634334hg38UCSC Ensembl
Innerchr17:43573474..43711700hg19UCSC Ensembl
Innerchr17:40929257..41067483hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg38138227
hg19138227
hg18138227
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv9840, esv10783, esv18214, esv10738, esv18131, esv10598, esv13385, esv18251, esv17285
SamplesNA18502, NA11995, NA12414, NA11931, NA12004, NA19190, NA18916, NA12287, NA12156, NA12044, NA12828, NA11993, NA12878, NA07045, NA19114, NA11894, NA12239, NA15510, NA19099, NA19225, NA06985, NA18523, NA18858, NA18909, NA19108, NA19147, NA19240, NA07037, NA12749, NA18505, NA19129, NA12006, NA12776
Known GenesCRHR1, LOC644172, LRRC37A4P, MGC57346
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)esv26189
Frequency
Sample Size40
Observed Gain28
Observed Loss13
Observed Complex0
Frequencyn/a


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