A curated catalogue of human genomic structural variation




Variant Details

Variant: esv20679



Internal ID11384598
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:63571057..63572087hg38UCSC Ensembl
Innerchr20:62202410..62203440hg19UCSC Ensembl
Innerchr20:61672854..61673884hg18UCSC Ensembl
Cytoband20q13.33
Allele length
AssemblyAllele length
hg381031
hg191031
hg181031
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv24758
Supporting Variantsessv35875, essv41175, essv36666, essv69115, essv48264, essv77315, essv76180, essv72344, essv33551, essv50522, essv55503, essv67160, essv47069, essv71509, essv64166, essv66380, essv80362, essv81465, essv62700, essv56663, essv79406, essv52168, essv51500, essv77920, essv38060, essv75276, essv44480, essv46171, essv58107, essv59920
SamplesNA11995, NA18861, NA12414, NA11931, NA12004, NA18916, NA12044, NA12828, NA12489, NA18907, NA07045, NA19114, NA11894, NA15510, NA19099, NA19257, NA19225, NA06985, NA18523, NA19108, NA19147, NA18517, NA19240, NA07037, NA12749, NA18505, NA19129, NA12006, NA18511, NA12776
Known GenesHELZ2
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)esv20679
Frequency
Sample Size40
Observed Gain30
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer