A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9988



Internal ID9632181
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:9407491..9770933hg38UCSC Ensembl
Innerchr12:9560087..9923529hg19UCSC Ensembl
Innerchr12:9451354..9814796hg18UCSC Ensembl
Innerchr12:9451354..9814796hg17UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg38363443
hg19363443
hg18363443
hg17363443
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2758293
Supporting Variants
SamplesNA19099
Known GenesCD69, CLEC2D, CLECL1, DDX12P, KLRB1, LOC374443
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)essv9988
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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