A curated catalogue of human genomic structural variation




Variant Details

Variant: essv50567



Internal ID11350174
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:23100349..23104285hg38UCSC Ensembl
Innerchr7:23139968..23143904hg19UCSC Ensembl
Innerchr7:23106493..23110429hg18UCSC Ensembl
Cytoband7p15.3
Allele length
AssemblyAllele length
hg383937
hg193937
hg183937
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv20831
Supporting Variants
SamplesNA18517
Known GenesKLHL7-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)essv50567
Frequency
Sample Size40
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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