A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2758319



Internal ID9633778
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:128587760..128896765hg38UCSC Ensembl
Innerchr12:129072305..129381310hg19UCSC Ensembl
Innerchr12:127638258..127947263hg18UCSC Ensembl
Innerchr12:127597185..127906190hg17UCSC Ensembl
Cytoband12q24.32
Allele length
AssemblyAllele length
hg38309006
hg19309006
hg18309006
hg17309006
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv2759920
Supporting Variantsessv19290, essv19513
SamplesNA10838, NA12864
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)esv2758319
Frequency
Sample Size270
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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