A curated catalogue of human genomic structural variation




Variant Details

Variant: esv14151



Internal ID11378070
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:51527430..51536030hg38UCSC Ensembl
Innerchr7:51595127..51603727hg19UCSC Ensembl
Innerchr7:51562621..51571221hg18UCSC Ensembl
Cytoband7p12.1
Allele length
AssemblyAllele length
hg388601
hg198601
hg188601
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv28338
Supporting Variantsessv36169, essv38827, essv47405, essv60733, essv58735, essv63491, essv56880
SamplesNA18861, NA11993, NA18907, NA15510, NA19257, NA18523, NA19108
Known Genes
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)esv14151
Frequency
Sample Size40
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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