A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6669



Internal ID9965455
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:152768405..153006843hg38UCSC Ensembl
Innerchr2:153624919..153863357hg19UCSC Ensembl
Innerchr2:153333165..153571603hg18UCSC Ensembl
Innerchr2:153450427..153688865hg17UCSC Ensembl
Cytoband2q23.3
Allele length
AssemblyAllele length
hg38238439
hg19238439
hg18238439
hg17238439
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2757837
Supporting Variants
SamplesNA18608
Known Genes
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)essv6669
Frequency
Sample Size270
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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