A curated catalogue of human genomic structural variation




Variant Details

Variant: esv10195



Internal ID11374114
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:8611559..8625675hg38UCSC Ensembl
Innerchr1:8671618..8685734hg19UCSC Ensembl
Innerchr1:8594205..8608321hg18UCSC Ensembl
Cytoband1p36.23
Allele length
AssemblyAllele length
hg3814117
hg1914117
hg1814117
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv26500
Supporting Variantsessv39106, essv75182, essv61132, essv57705, essv49938, essv52643, essv53905, essv46463, essv58369, essv73403, essv59644, essv76599, essv41052, essv62367, essv76155, essv70430, essv44197
SamplesNA18508, NA12414, NA12004, NA18916, NA12287, NA12156, NA11993, NA12489, NA12878, NA12239, NA15510, NA18523, NA19108, NA18517, NA19129, NA12006, NA18511
Known GenesRERE
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)esv10195
Frequency
Sample Size40
Observed Gain1
Observed Loss16
Observed Complex0
Frequencyn/a


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