A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2758570



Internal ID9634029
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:57605940..57863974hg38UCSC Ensembl
InnerchrX:57632373..57890408hg19UCSC Ensembl
InnerchrX:57649098..57907133hg18UCSC Ensembl
InnerchrX:57515394..57773429hg17UCSC Ensembl
CytobandXp11.1
Allele length
AssemblyAllele length
hg38258035
hg19258036
hg18258036
hg17258036
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv2758868
Supporting Variantsessv10159, essv12545, essv8626, essv13008, essv13657, essv16736, essv9893, essv16865, essv8729, essv12675, essv12280, essv16941, essv14867, essv15395, essv15880, essv16082, essv12791, essv14292
SamplesNA19203, NA19145, NA19092, NA19098, NA19119, NA19130, NA19239, NA19120, NA19194, NA18859, NA19205, NA19101, NA19144, NA18501, NA19223, NA18500, NA18872, NA18522
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)esv2758570
Frequency
Sample Size270
Observed Gain18
Observed Loss0
Observed Complex0
Frequencyn/a


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