A curated catalogue of human genomic structural variation




Variant Details

Variant: esv17696



Internal ID11381615
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:43776203..43780926hg38UCSC Ensembl
Innerchr8:43631346..43636069hg19UCSC Ensembl
Innerchr8:43750503..43755226hg18UCSC Ensembl
Cytoband8p11.1
Allele length
AssemblyAllele length
hg384724
hg194724
hg184724
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv26199
Supporting Variantsessv68491, essv61351, essv64058, essv36930, essv62369, essv47085, essv35944, essv82743, essv54392, essv44423, essv43564, essv45479, essv70709, essv72953, essv69574, essv76477, essv39519, essv56402, essv79001, essv80623, essv67417, essv66412, essv60425, essv40705, essv33909, essv53081, essv48516
SamplesNA18502, NA11995, NA18861, NA18508, NA12414, NA19190, NA18916, NA12287, NA12044, NA12828, NA12489, NA12878, NA18907, NA07045, NA11894, NA12239, NA15510, NA19099, NA19225, NA18523, NA18858, NA18909, NA19240, NA07037, NA12749, NA19129, NA12776
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)esv17696
Frequency
Sample Size40
Observed Gain1
Observed Loss26
Observed Complex0
Frequencyn/a


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