A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9757



Internal ID9631925
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:9218999..9678072hg38UCSC Ensembl
Innerchr12:9371595..9830668hg19UCSC Ensembl
Innerchr12:9262862..9721935hg18UCSC Ensembl
Innerchr12:9262862..9721935hg17UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg38459074
hg19459074
hg18459074
hg17459074
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2758293
Supporting Variants
SamplesNA18863
Known GenesA2MP1, CLEC2D, DDX12P, KLRB1, LINC00987, LOC374443, LOC642846, MIR1244-1, MIR1244-2, MIR1244-3
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)essv9757
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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