A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10696



Internal ID9607776
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:96905372..97368630hg38UCSC Ensembl
Innerchr2:97571109..98033823hg19UCSC Ensembl
Innerchr2:96934836..97399962hg18UCSC Ensembl
Innerchr2:96992983..97492237hg17UCSC Ensembl
Cytoband2q11.2
Allele length
AssemblyAllele length
hg38463259
hg19462715
hg18465127
hg17499255
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2757819
Supporting Variants
SamplesNA18855
Known GenesANKRD36, FAHD2B, FAM178B, LOC100506076, LOC100506123
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)essv10696
Frequency
Sample Size270
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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