A curated catalogue of human genomic structural variation




Variant Details

Variant: esv22277



Internal ID11386196
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:42804714..43296527hg38UCSC Ensembl
Innerchr19:43308866..43800679hg19UCSC Ensembl
Innerchr19:48000706..48492519hg18UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg38491814
hg19491814
hg18491814
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv14038, esv19002, esv12103, esv13582, esv16501, esv20446, esv19637, esv10364
SamplesNA18502, NA11995, NA18861, NA12414, NA12004, NA12287, NA12156, NA12044, NA11993, NA12489, NA12878, NA11894, NA12239, NA15510, NA19099, NA19257, NA06985, NA18523, NA18858, NA18909, NA19108, NA19147, NA18517, NA19240, NA07037, NA12749, NA18505, NA19129, NA12006, NA12776
Known GenesLOC100289650, LOC284344, PSG1, PSG10P, PSG11, PSG2, PSG4, PSG5, PSG6, PSG7, PSG9
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)esv22277
Frequency
Sample Size40
Observed Gain28
Observed Loss3
Observed Complex0
Frequencyn/a


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