A curated catalogue of human genomic structural variation




Variant Details

Variant: essv20764



Internal ID9618963
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 StatusS
Merged Variantsesv2758579
Supporting Variants
SamplesNA12146
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)essv20764
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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