A curated catalogue of human genomic structural variation




Variant Details

Variant: esv22113



Internal ID11039346
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:69533621..71366203hg38UCSC Ensembl
Innerchr5:68829448..70662030hg19UCSC Ensembl
Innerchr5:68865204..70697786hg18UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg381832583
hg191832583
hg181832583
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv10708, esv16061, esv18024, esv20041, esv16040, esv20827, esv20714, esv11389, esv12092, esv17525, esv9811, esv16733, esv17531, esv14968, esv15058, esv18486, esv20684, esv18930, esv21372, esv11562, esv16969, esv13923, esv21154, esv20437, esv20698, esv14529, esv16414, esv17372, esv19032, esv9822, esv14846, esv17729, esv10644, esv18421, esv20207, esv10572, esv21413, esv13502, esv10440, esv21247, esv10489, esv16697, esv18751, esv17701, esv18523, esv21405, esv21364, esv11749, esv13648, esv17076, esv11712, esv17424, esv11774, esv19955, esv21096, esv19842, esv17253, esv14782, esv10675, esv19217, esv14795, esv17258, esv19631, esv13002, esv17378, esv12170, esv17546, esv16122
SamplesNA12489, NA18861, NA07037, NA18523, NA19114, NA18511, NA11931, NA12828, NA18517, NA12776, NA19257, NA19108, NA15510, NA18505, NA12044, NA12287, NA19147, NA12414, NA18508, NA12004, NA11894, NA11995, NA18916, NA19190, NA12006, NA07045, NA12239, NA19129, NA06985, NA18502, NA18858, NA18907, NA18909, NA12749, NA12156, NA19099, NA12878, NA19225, NA11993, NA19240
Known GenesGTF2H2, GTF2H2B, GTF2H2C, GTF2H2D, GUSBP3, GUSBP9, LOC100272216, LOC441081, LOC647859, NAIP, OCLN, SERF1A, SERF1B, SMA4, SMA5, SMN1, SMN2
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)esv22113
Frequency
Sample Size40
Observed Gain40
Observed Loss12
Observed Complex0
Frequencyn/a


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