A curated catalogue of human genomic structural variation




Variant Details

Variant: essv22311



Internal ID9620683
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:231672114..231864059hg38UCSC Ensembl
Innerchr2:232536825..232728769hg19UCSC Ensembl
Innerchr2:232245069..232437013hg18UCSC Ensembl
Innerchr2:232362330..232554274hg17UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg38191946
hg19191945
hg18191945
hg17191945
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2757849
Supporting Variants
SamplesNA06985
Known GenesCOPS7B, MIR1244-1, MIR1244-2, MIR1244-3, PDE6D, PTMA
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)essv22311
Frequency
Sample Size270
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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