A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15244



Internal ID9612830
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:7704223..8356097hg38UCSC Ensembl
Innerchr12:7856819..8508693hg19UCSC Ensembl
Innerchr12:7748086..8399960hg18UCSC Ensembl
Innerchr12:7748086..8399960hg17UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg38651875
hg19651875
hg18651875
hg17651875
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2758292
Supporting Variants
SamplesNA19094
Known GenesC3AR1, CLEC4A, CLEC4C, DPPA3, FAM66C, FAM86FP, FAM90A1, FOXJ2, NANOG, NANOGNB, NECAP1, POU5F1P3, SLC2A14, SLC2A3, ZNF705A
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)essv15244
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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