A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3804



Internal ID9625312
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:3372374..3632289hg38UCSC Ensembl
Innerchr1:3288938..3548853hg19UCSC Ensembl
Innerchr1:3278798..3538713hg18UCSC Ensembl
Innerchr1:3312095..3572010hg17UCSC Ensembl
Cytoband1p36.32
Allele length
AssemblyAllele length
hg38259916
hg19259916
hg18259916
hg17259916
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2757719
Supporting Variants
SamplesNA18943
Known GenesARHGEF16, MEGF6, MIR551A, PRDM16, TPRG1L, WRAP73
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)essv3804
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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