A curated catalogue of human genomic structural variation




Variant Details

Variant: essv18990



Internal ID9616991
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:97218259..97720044hg38UCSC Ensembl
Innerchr2:97883996..98336507hg19UCSC Ensembl
Innerchr2:97247723..97702939hg18UCSC Ensembl
Innerchr2:97305870..97795025hg17UCSC Ensembl
Cytoband2q11.2
Allele length
AssemblyAllele length
hg38501786
hg19452512
hg18455217
hg17489156
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2757819
Supporting Variants
SamplesNA12005
Known GenesACTR1B, ANKRD36, ANKRD36B, COX5B, LINC01125, LOC100506076, LOC100506123, ZAP70
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)essv18990
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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