A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6571



Internal ID9965926
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:90896837..91191237hg38UCSC Ensembl
InnerchrX:90151836..90446236hg19UCSC Ensembl
InnerchrX:90038492..90332892hg18UCSC Ensembl
InnerchrX:89957981..90252381hg17UCSC Ensembl
CytobandXq21.31
Allele length
AssemblyAllele length
hg38294401
hg19294401
hg18294401
hg17294401
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2758577
Supporting Variants
SamplesNA18621
Known Genes
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)essv6571
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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