A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2758580



Internal ID9980657
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:105058324..105170354hg38UCSC Ensembl
InnerchrX:104303006..104415037hg19UCSC Ensembl
InnerchrX:104189662..104301693hg18UCSC Ensembl
InnerchrX:104109151..104221182hg17UCSC Ensembl
CytobandXq22.3
Allele length
AssemblyAllele length
hg38112031
hg19112032
hg18112032
hg17112032
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv2758881
Supporting Variantsessv14871
SamplesNA18522
Known GenesIL1RAPL2
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)esv2758580
Frequency
Sample Size270
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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