A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2759386



Internal ID9634845
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:150445030..150906180hg38UCSC Ensembl
Innerchr5:149824593..150285742hg19UCSC Ensembl
Innerchr5:149804786..150265935hg18UCSC Ensembl
Innerchr5:149804786..150265935hg17UCSC Ensembl
Cytoband5q33.1
Allele length
AssemblyAllele length
hg38461151
hg19461150
hg18461150
hg17461150
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2758021
SamplesNA19142, NA19137, NA19207, NA18964, NA18863, NA19127, NA19152, NA19194, NA18861, NA18605, NA18594, NA19192, NA18871, NA19222, NA18523, NA19173, NA18612, NA19209, NA18501, NA19093, NA19120, NA18500, NA18570, NA18545, NA18516, NA19203, NA18953, NA18947, NA18573, NA18855, NA19144, NA19210, NA18994, NA18505, NA19208, NA18862, NA18943, NA18949, NA18632, NA19140, NA19161, NA18912, NA19211, NA18998, NA18624, NA18967, NA18854, NA18635, NA18576, NA18622, NA18563, NA18990, NA18856, NA18959, NA18609, NA18547, NA18976, NA18637, NA11995, NA18593, NA19100, NA18970, NA19000, NA18537, NA18515, NA19129, NA19172, NA18572, NA19094, NA19206, NA19102, NA18522, NA19238, NA19005, NA18502, NA19119, NA19098, NA19139, NA18978, NA18858, NA18942, NA18997, NA18562, NA19131, NA19159, NA18945, NA19141, NA18940, NA18987, NA18999, NA19201, NA18995, NA19193, NA18857, NA19116, NA19132, NA19099, NA19205, NA19160, NA18571, NA18611, NA12236, NA19130, NA19171, NA19240, NA12874, NA18853, NA19092, NA18555, NA19200, NA19202, NA18980
Known GenesDCTN4, IRGM, LOC102546298, MYOZ3, NDST1, RBM22, RPS14, SMIM3, SYNPO, ZNF300
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)esv2759386
Frequency
Sample Size270
Observed Gain0
Observed Loss112
Observed Complex0
Frequencyn/a


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