A curated catalogue of human genomic structural variation




Variant Details

Variant: esv23788



Internal ID11387707
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:91492631..91785076hg38UCSC Ensembl
Innerchr2:91690328..91973102hg19UCSC Ensembl
Innerchr2:91054055..91336829hg18UCSC Ensembl
Cytoband2p11.1
Allele length
AssemblyAllele length
hg38292446
hg19282775
hg18282775
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv19101, esv19207, esv13126, esv11381, esv13565, esv13483, esv19045
SamplesNA12287, NA12044, NA19114, NA11894, NA12239, NA06985, NA18858, NA19108, NA19147, NA18505, NA19129
Known GenesGGT8P, LOC654342
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)esv23788
Frequency
Sample Size40
Observed Gain9
Observed Loss2
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer