A curated catalogue of human genomic structural variation




Variant Details

Variant: essv2489



Internal ID9623546
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:8123950..8471391hg38UCSC Ensembl
Innerchr12:8276546..8623987hg19UCSC Ensembl
Innerchr12:8167813..8515254hg18UCSC Ensembl
Innerchr12:8167813..8515254hg17UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg38347442
hg19347442
hg18347442
hg17347442
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2758292
Supporting Variants
SamplesNA19003
Known GenesCLEC4A, CLEC6A, FAM66C, FAM86FP, FAM90A1, LINC00937, POU5F1P3, 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)essv2489
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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