A curated catalogue of human genomic structural variation




Variant Details

Variant: esv11611



Internal ID11028845
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:51804077..51805376hg38UCSC Ensembl
Innerchr6:51668875..51670174hg19UCSC Ensembl
Innerchr6:51776834..51778133hg18UCSC Ensembl
Cytoband6p12.2
Allele length
AssemblyAllele length
hg381300
hg191300
hg181300
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv24252
Supporting Variantsessv50915, essv79717, essv40617, essv58329, essv52562, essv75179, essv62787, essv57088, essv83546, essv48944, essv59595, essv39541
SamplesNA11931, NA12004, NA19190, NA12287, NA11993, NA12878, NA15510, NA18523, NA19108, NA07037, NA12749, NA12006
Known GenesPKHD1
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)esv11611
Frequency
Sample Size40
Observed Gain0
Observed Loss12
Observed Complex0
Frequencyn/a


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