A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2758523



Internal ID9633982
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:57595722..58113215hg38UCSC Ensembl
Innerchr20:56170778..56688271hg19UCSC Ensembl
Innerchr20:55604184..56121677hg18UCSC Ensembl
Innerchr20:55604184..56121677hg17UCSC Ensembl
Cytoband20q13.31
Allele length
AssemblyAllele length
hg38517494
hg19517494
hg18517494
hg17517494
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv2758802
Supporting Variantsessv1835, essv17612, essv16219, essv18147, essv685, essv4369, essv6273, essv18663, essv23576, essv16083, essv13525, essv20401, essv21690, essv4946, essv5304, essv15567, essv6350, essv12685, essv7085, essv10882, essv4133, essv24122, essv7361, essv19602, essv15646, essv8333, essv10420, essv15299, essv14056, essv9831, essv7589, essv3414, essv7695, essv4009, essv7842, essv12555
SamplesNA19222, NA18862, NA18861, NA18545, NA12248, NA19098, NA18633, NA12155, NA18563, NA18558, NA18970, NA19137, NA18975, NA11993, NA10847, NA12753, NA19161, NA18637, NA18871, NA18976, NA12234, NA18537, NA18573, NA10830, NA18912, NA18555, NA19160, NA18570, NA18858, NA18945, NA18863, NA18501, NA18636, NA18500, NA18609, NA12006
Known GenesMIR4532, PMEPA1, ZBP1
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)esv2758523
Frequency
Sample Size270
Observed Gain0
Observed Loss36
Observed Complex0
Frequencyn/a


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