A curated catalogue of human genomic structural variation




Variant Details

Variant: esv24626



Internal ID11041859
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:112832815..113310193hg38UCSC Ensembl
Innerchr1:113375437..113852815hg19UCSC Ensembl
Innerchr1:113176960..113654338hg18UCSC Ensembl
Cytoband1p13.2
Allele length
AssemblyAllele length
hg38477379
hg19477379
hg18477379
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv18293, esv12789, esv15442
SamplesNA18861, NA18523, NA18511, NA18907, NA18909, NA19099, NA19225
Known GenesAKR7A2P1, LOC100996251, LOC100996702, LOC643441, LRIG2, SLC16A1, SLC16A1-AS1
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)esv24626
Frequency
Sample Size40
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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