A curated catalogue of human genomic structural variation




Variant Details

Variant: esv29886



Internal ID11047119
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:8161178..8449233hg38UCSC Ensembl
Innerchr12:8313774..8601829hg19UCSC Ensembl
Innerchr12:8205041..8493096hg18UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg38288056
hg19288056
hg18288056
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv14639, esv17877, esv13835, esv13065, esv16224, esv11524, esv11842, esv16287
SamplesNA12489, NA18861, NA18523, NA19114, NA18511, NA12828, NA18517, NA19108, NA18505, NA12287, NA19147, NA12414, NA18508, NA12004, NA11894, NA11995, NA18916, NA19190, NA07045, NA12239, NA19129, NA06985, NA18502, NA18858, NA18909, NA12156, NA19225, NA11993, NA19240
Known GenesFAM66C, FAM86FP, FAM90A1, LINC00937, ZNF705A
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)esv29886
Frequency
Sample Size40
Observed Gain24
Observed Loss8
Observed Complex0
Frequencyn/a


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