A curated catalogue of human genomic structural variation




Variant Details

Variant: esv10730



Internal ID11374649
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:229676779..229684884hg38UCSC Ensembl
Innerchr1:229812526..229820631hg19UCSC Ensembl
Innerchr1:227879149..227887254hg18UCSC Ensembl
Cytoband1q42.13
Allele length
AssemblyAllele length
hg388106
hg198106
hg188106
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv27308
Supporting Variantsessv41321, essv34005, essv75509, essv36795, essv40762, essv38886, essv61003, essv37749, essv67825, essv64909, essv47652, essv84098, essv72821, essv82531
SamplesNA18502, NA18861, NA12414, NA19190, NA12287, NA12878, NA19114, NA11894, NA12239, NA19257, NA19225, NA18858, NA19240, NA18505
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)esv10730
Frequency
Sample Size40
Observed Gain0
Observed Loss14
Observed Complex0
Frequencyn/a


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