A curated catalogue of human genomic structural variation




Variant Details

Variant: essv23845



Internal ID9622386
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:103988474..104063291hg38UCSC Ensembl
InnerchrX:103243050..103317855hg19UCSC Ensembl
InnerchrX:103129706..103204511hg18UCSC Ensembl
InnerchrX:103049195..103124000hg17UCSC Ensembl
CytobandXq22.2
Allele length
AssemblyAllele length
hg3874818
hg1974806
hg1874806
hg1774806
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2758579
Supporting Variants
SamplesNA07022
Known GenesH2BFM, H2BFWT, H2BFXP, MIR1256
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)essv23845
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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