A curated catalogue of human genomic structural variation




Variant Details

Variant: essv19432



Internal ID9617483
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:7704223..8471391hg38UCSC Ensembl
Innerchr12:7856819..8623987hg19UCSC Ensembl
Innerchr12:7748086..8515254hg18UCSC Ensembl
Innerchr12:7748086..8515254hg17UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg38767169
hg19767169
hg18767169
hg17767169
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2758292
Supporting Variants
SamplesNA11840
Known GenesC3AR1, CLEC4A, CLEC4C, CLEC6A, DPPA3, FAM66C, FAM86FP, FAM90A1, FOXJ2, LINC00937, 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)essv19432
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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