A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12636



Internal ID9609932
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:120267570..120449094hg38UCSC Ensembl
InnerchrX:119401425..119582949hg19UCSC Ensembl
InnerchrX:119285453..119466977hg18UCSC Ensembl
InnerchrX:119183307..119364831hg17UCSC Ensembl
CytobandXq24
Allele length
AssemblyAllele length
hg38181525
hg19181525
hg18181525
hg17181525
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2758587
Supporting Variants
SamplesNA18500
Known GenesATP1B4, LAMP2, TMEM255A
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)essv12636
Frequency
Sample Size270
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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