A curated catalogue of human genomic structural variation




Variant Details

Variant: esv24863



Internal ID11042096
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:47987534..48182678hg38UCSC Ensembl
Innerchr10:49195571..49390721hg19UCSC Ensembl
Innerchr10:48865577..49060727hg18UCSC Ensembl
Cytoband10q11.22
Allele length
AssemblyAllele length
hg38195145
hg19195151
hg18195151
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv19691, esv13067, esv16248, esv18884, esv15276
SamplesNA18861, NA07037, NA19114, NA12776, NA19257, NA15510, NA12287, NA19147, NA12004, NA11894, NA11995, NA19190, NA19129, NA12878, NA19225
Known GenesCTGLF12P, FAM25C, FAM25G, FRMPD2, FRMPD2P1
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)esv24863
Frequency
Sample Size40
Observed Gain3
Observed Loss12
Observed Complex0
Frequencyn/a


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