A curated catalogue of human genomic structural variation




Variant Details

Variant: esv21783



Internal ID11039016
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:46087930..46709408hg38UCSC Ensembl
Innerchr17:44165296..44786774hg19UCSC Ensembl
Innerchr17:41521114..42141957hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg38621479
hg19621479
hg18620844
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv16188, esv16294, esv20060, esv12384, esv14877, esv15571, esv9865, esv15493, esv20286, esv13532, esv10857
SamplesNA11995, NA18508, NA12414, NA11931, NA12004, NA19190, NA18916, NA12287, NA12156, NA12044, NA12828, NA11993, NA12878, NA07045, NA19114, NA11894, NA12239, NA15510, NA19099, NA19257, NA19225, NA06985, NA18523, NA18858, NA18909, NA19108, NA18517, NA19240, NA07037, NA12749, NA18505, NA19129, NA12006, NA12776
Known GenesARL17A, ARL17B, KANSL1, KANSL1-AS1, LOC644172, LRRC37A, LRRC37A2, NSF, NSFP1
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)esv21783
Frequency
Sample Size40
Observed Gain28
Observed Loss13
Observed Complex0
Frequencyn/a


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