A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7807



Internal ID9964006
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:128009089..128159710hg38UCSC Ensembl
InnerchrX:127143068..127293687hg19UCSC Ensembl
InnerchrX:126970749..127121368hg18UCSC Ensembl
InnerchrX:126868603..127019222hg17UCSC Ensembl
CytobandXq25
Allele length
AssemblyAllele length
hg38150622
hg19150620
hg18150620
hg17150620
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2758590
Supporting Variants
SamplesNA18558
Known GenesACTRT1
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)essv7807
Frequency
Sample Size270
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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