A curated catalogue of human genomic structural variation




Variant Details

Variant: essv20020



Internal ID9618138
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:37536024..37759627hg38UCSC Ensembl
Innerchr12:37929826..38153429hg19UCSC Ensembl
Innerchr12:36216093..36439696hg18UCSC Ensembl
Innerchr12:36216093..36439696hg17UCSC Ensembl
Cytoband12q11
Allele length
AssemblyAllele length
hg38223604
hg19223604
hg18223604
hg17223604
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2758305
Supporting Variants
SamplesNA07048
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)essv20020
Frequency
Sample Size270
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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