A curated catalogue of human genomic structural variation




Variant Details

Variant: esv28230



Internal ID11045463
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:55552107..56317719hg38UCSC Ensembl
Innerchr7:55619800..56385412hg19UCSC Ensembl
Innerchr7:55587294..56352906hg18UCSC Ensembl
Cytoband7p11.2
Allele length
AssemblyAllele length
hg38765613
hg19765613
hg18765613
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv12412, esv10581, esv20179, esv17341, esv11131
SamplesNA11995, NA18861, NA18916, NA12287, NA12156, NA12044, NA12828, NA11993, NA07045, NA19225, NA06985, NA18909, NA18517, NA07037, NA19129, NA12776
Known GenesCCT6A, CHCHD2, FKBP9L, GBAS, MRPS17, NUPR1L, PHKG1, PSPH, SEPT14, SNORA15, SUMF2, VOPP1, ZNF713
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)esv28230
Frequency
Sample Size40
Observed Gain4
Observed Loss13
Observed Complex0
Frequencyn/a


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