A curated catalogue of human genomic structural variation




Variant Details

Variant: esv29642



Internal ID11046875
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:16506591..16799134hg38UCSC Ensembl
Innerchr1:16833086..17125629hg19UCSC Ensembl
Innerchr1:16705673..16998216hg18UCSC Ensembl
Cytoband1p36.13
Allele length
AssemblyAllele length
hg38292544
hg19292544
hg18292544
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv19804, esv17891, esv13221, esv18078, esv20185, esv16441, esv18819, esv11265, esv10634, esv17374, esv20857, esv12048, esv17903, esv20432, esv12183, esv15698
SamplesNA12489, NA18861, NA18523, NA19114, NA18511, NA11931, NA12828, NA18517, NA19257, NA19108, NA15510, NA18505, NA12044, NA12287, NA19147, NA12414, NA12004, NA11894, NA18916, NA19190, NA07045, NA12239, NA19129, NA18502, NA18858, NA18907, NA18909, NA12749, NA12156, NA19099, NA12878, NA19225, NA11993, NA19240
Known GenesCROCCP2, ESPNP, LOC729574, MIR3675, MST1L, MST1P2, NBPF1
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)esv29642
Frequency
Sample Size40
Observed Gain26
Observed Loss20
Observed Complex0
Frequencyn/a


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