A curated catalogue of human genomic structural variation




Variant Details

Variant: essv19290



Internal ID9617325
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:128672895..128896765hg38UCSC Ensembl
Innerchr12:129157440..129381310hg19UCSC Ensembl
Innerchr12:127723393..127947263hg18UCSC Ensembl
Innerchr12:127682320..127906190hg17UCSC Ensembl
Cytoband12q24.32
Allele length
AssemblyAllele length
hg38223871
hg19223871
hg18223871
hg17223871
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2758319
Supporting Variants
SamplesNA10838
Known GenesGLT1D1, SLC15A4, TMEM132C
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)essv19290
Frequency
Sample Size270
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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