A curated catalogue of human genomic structural variation




Variant Details

Variant: esv27624



Internal ID11044857
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:102472919..102691417hg38UCSC Ensembl
Innerchr7:102113366..102331864hg19UCSC Ensembl
Innerchr7:101900371..102119100hg18UCSC Ensembl
Cytoband7q22.1
Allele length
AssemblyAllele length
hg38218499
hg19218499
hg18218730
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv15614
SamplesNA12489, NA18861, NA07037, NA18523, NA19114, NA18511, NA11931, NA18517, NA12776, NA19257, NA19108, NA15510, NA18505, NA19147, NA12414, NA18508, NA11894, NA11995, NA18916, NA19190, NA12006, NA07045, NA12239, NA19129, NA06985, NA18858, NA18907, NA12749, NA19099, NA12878, NA19225, NA19240
Known GenesLRWD1, POLR2J, POLR2J2, POLR2J3, RASA4, RASA4B, SPDYE2, SPDYE2B, UPK3BL
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)esv27624
Frequency
Sample Size40
Observed Gain31
Observed Loss1
Observed Complex0
Frequencyn/a


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