A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2758548



Internal ID9634007
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:42371195..42687300hg38UCSC Ensembl
Innerchr22:42767201..43083306hg19UCSC Ensembl
Innerchr22:41097145..41413250hg18UCSC Ensembl
Innerchr22:41091699..41407804hg17UCSC Ensembl
Cytoband22q13.2
Allele length
AssemblyAllele length
hg38316106
hg19316106
hg18316106
hg17316106
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv2758839
Supporting Variantsessv9023, essv13872, essv11825, essv9340, essv11590, essv16726, essv22156, essv10034, essv4487, essv18178, essv3033, essv5377, essv22185, essv7385, essv15298, essv9803, essv2515, essv11675, essv16485, essv14893, essv1863, essv9120, essv2351, essv9707, essv20414
SamplesNA18862, NA10857, NA18563, NA18940, NA18860, NA12044, NA19210, NA18976, NA18981, NA19142, NA10830, NA19154, NA18853, NA19099, NA19132, NA19003, NA18863, NA12057, NA18913, NA19173, NA18521, NA18854, NA18552, NA18623, NA18522
Known GenesATP5L2, CYB5R3, NFAM1, POLDIP3, RNU12, RRP7A, RRP7B, SERHL, SERHL2
MethodBAC aCGH
AnalysisArray images were acquired using an Agilent laser scanner (Agilent Technologies, UK). Fluorescence intensities and log2 ratio values were extracted using Bluefuse software (Bluegnome Ltd).
PlatformAgilent
Comments
ReferenceRedon_et_al_2006
Pubmed ID17122850
Accession Number(s)esv2758548
Frequency
Sample Size270
Observed Gain25
Observed Loss0
Observed Complex0
Frequencyn/a


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