A curated catalogue of human genomic structural variation




Variant Details

Variant: essv17439



Internal ID9957746
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:63131994..63326182hg38UCSC Ensembl
InnerchrX:62351464..62546061hg19UCSC Ensembl
InnerchrX:62268189..62462786hg18UCSC Ensembl
InnerchrX:62134485..62329082hg17UCSC Ensembl
CytobandXq11.1
Allele length
AssemblyAllele length
hg38194189
hg19194598
hg18194598
hg17194598
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2758571
Supporting Variants
SamplesNA12043
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)essv17439
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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