A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13433



Internal ID9610818
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:129563598..129830109hg38UCSC Ensembl
InnerchrX:128697575..128964085hg19UCSC Ensembl
InnerchrX:128525256..128791766hg18UCSC Ensembl
InnerchrX:128423110..128689620hg17UCSC Ensembl
CytobandXq25
Allele length
AssemblyAllele length
hg38266512
hg19266511
hg18266511
hg17266511
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2758591
Supporting Variants
SamplesNA19192
Known GenesAPLN, OCRL, SASH3, XPNPEP2, ZDHHC9
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)essv13433
Frequency
Sample Size270
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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