A curated catalogue of human genomic structural variation




Variant Details

Variant: esv10572



Internal ID11027806
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:70485491..70536103hg38UCSC Ensembl
Innerchr5:69781318..69831930hg19UCSC Ensembl
Innerchr5:69817074..69867686hg18UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg3850613
hg1950613
hg1850613
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv22113
Supporting Variantsessv53892, essv50991, essv77845, essv63968, essv42781, essv69689, essv38234, essv74515
SamplesNA18508, NA11931, NA12004, NA12044, NA07045, NA19257, NA06985, NA18909
Known GenesGUSBP9, LOC441081, SMA4, SMA5
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)esv10572
Frequency
Sample Size40
Observed Gain2
Observed Loss6
Observed Complex0
Frequencyn/a


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