A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2758579



Internal ID9980656
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:103827471..104210380hg38UCSC Ensembl
InnerchrX:103082401..103455061hg19UCSC Ensembl
InnerchrX:102969057..103341717hg18UCSC Ensembl
InnerchrX:102888546..103261206hg17UCSC Ensembl
CytobandXq22.2
Allele length
AssemblyAllele length
hg38382910
hg19372661
hg18372661
hg17372661
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv2758880
Supporting Variantsessv23845, essv20764
SamplesNA12146, NA07022
Known GenesFAM199X, H2BFM, H2BFWT, H2BFXP, LOC286437, MIR1256, RAB9B, SLC25A53, TMSB15B, ZCCHC18
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)esv2758579
Frequency
Sample Size270
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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