A curated catalogue of human genomic structural variation

Variant Details

Variant: esv21783

Internal ID11039016
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:46087930..46709408hg38UCSC Ensembl
Innerchr17:44165296..44786774hg19UCSC Ensembl
Innerchr17:41521114..42141957hg18UCSC Ensembl
Allele length
AssemblyAllele length
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv12384, esv16294, esv10857, esv20060, esv20286, esv15493, esv16188, esv15571, esv14877, esv13532, esv9865
SamplesNA07037, NA18523, NA19114, NA11931, NA12828, NA18517, NA12776, NA19257, NA19108, NA15510, NA18505, NA12044, NA12287, NA12414, NA18508, NA12004, NA11894, NA11995, NA18916, NA19190, NA12006, NA07045, NA12239, NA19129, NA06985, NA18858, NA18909, NA12749, NA12156, NA19099, NA12878, NA19225, NA11993, NA19240
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
Pubmed ID19812545
Accession Number(s)esv21783
Sample Size40
Observed Gain28
Observed Loss13
Observed Complex0

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