A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16941



Internal ID9614715
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:57605940..57863974hg38UCSC Ensembl
InnerchrX:57632373..57890408hg19UCSC Ensembl
InnerchrX:57649098..57907133hg18UCSC Ensembl
InnerchrX:57515394..57773429hg17UCSC Ensembl
CytobandXp11.1
Allele length
AssemblyAllele length
hg38258035
hg19258036
hg18258036
hg17258036
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2758570
Supporting Variants
SamplesNA19144
Known Genes
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)essv16941
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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