A curated catalogue of human genomic structural variation




Variant Details

Variant: esv20857



Internal ID11038091
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:16508236..16761704hg38UCSC Ensembl
Innerchr1:16834731..17088199hg19UCSC Ensembl
Innerchr1:16707318..16960786hg18UCSC Ensembl
Cytoband1p36.13
Allele length
AssemblyAllele length
hg38253469
hg19253469
hg18253469
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv29642
Supporting Variantsessv70549, essv36212, essv34047, essv43005, essv60821, essv66634
SamplesNA18502, NA18916, NA12828, NA18907, NA18523, NA18909
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)esv20857
Frequency
Sample Size40
Observed Gain5
Observed Loss1
Observed Complex0
Frequencyn/a


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