A curated catalogue of human genomic structural variation




Variant Details

Variant: essv17464



Internal ID9957786
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:99764429..99930213hg38UCSC Ensembl
Innerchr2:100380891..100546675hg19UCSC Ensembl
Innerchr2:99747323..99913107hg18UCSC Ensembl
Innerchr2:99839409..100005193hg17UCSC Ensembl
Cytoband2q11.2
Allele length
AssemblyAllele length
hg38165785
hg19165785
hg18165785
hg17165785
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2757820
Supporting Variants
SamplesNA12043
Known GenesAFF3
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)essv17464
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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