A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6671



Internal ID9628497
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:67757466..68092023hg38UCSC Ensembl
Innerchr11:67524937..67859490hg19UCSC Ensembl
Innerchr11:67281513..67616066hg18UCSC Ensembl
Innerchr11:67281513..67616066hg17UCSC Ensembl
Cytoband11q13.2
Allele length
AssemblyAllele length
hg38334558
hg19334554
hg18334554
hg17334554
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2758275
Supporting Variants
SamplesNA18608
Known GenesALDH3B1, CHKA, FAM86C2P, MIR4691, MIR6753, MIR7113, NDUFS8, TCIRG1, UNC93B1
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)essv6671
Frequency
Sample Size270
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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