A curated catalogue of human genomic structural variation




Variant Details

Variant: essv49719



Internal ID11004336
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:233332196..233332695hg38UCSC Ensembl
Innerchr1:233467942..233468441hg19UCSC Ensembl
Innerchr1:231534565..231535064hg18UCSC Ensembl
Cytoband1q42.2
Allele length
AssemblyAllele length
hg38500
hg19500
hg18500
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv11169
Supporting Variants
SamplesNA18517
Known GenesKIAA1804
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)essv49719
Frequency
Sample Size40
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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