A curated catalogue of human genomic structural variation




Variant Details

Variant: essv2022



Internal ID9618359
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:58932619..59241200hg38UCSC Ensembl
Innerchr11:58700092..59008673hg19UCSC Ensembl
Innerchr11:58456668..58765249hg18UCSC Ensembl
Innerchr11:58456668..58765249hg17UCSC Ensembl
Cytoband11q12.1
Allele length
AssemblyAllele length
hg38308582
hg19308582
hg18308582
hg17308582
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2758272
Supporting Variants
SamplesNA18949
Known GenesDTX4, FAM111A, FAM111B, GLYATL1, LOC283194, MPEG1
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)essv2022
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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