A curated catalogue of human genomic structural variation




Variant Details

Variant: essv24991



Internal ID9623659
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:97025303..97216357hg38UCSC Ensembl
Innerchr2:97691040..97882094hg19UCSC Ensembl
Innerchr2:97054767..97245821hg18UCSC Ensembl
Innerchr2:97112914..97303968hg17UCSC Ensembl
Cytoband2q11.2
Allele length
AssemblyAllele length
hg38191055
hg19191055
hg18191055
hg17191055
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2757819
Supporting Variants
SamplesNA10839
Known GenesANKRD36, FAHD2B
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)essv24991
Frequency
Sample Size270
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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