A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2758883



Internal ID9634342
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:109535772..109737663hg38UCSC Ensembl
InnerchrX:108779001..108980892hg19UCSC Ensembl
InnerchrX:108665657..108867548hg18UCSC Ensembl
InnerchrX:108585146..108787037hg17UCSC Ensembl
CytobandXq22.3
Allele length
AssemblyAllele length
hg38201892
hg19201892
hg18201892
hg17201892
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2758582
SamplesNA19223, NA19153
Known GenesACSL4, KCNE1L, NXT2
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)esv2758883
Frequency
Sample Size270
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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