A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15891



Internal ID9613548
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 StatusS
Merged Variantsesv2758582
Supporting Variants
SamplesNA19223
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)essv15891
Frequency
Sample Size270
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer