A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2759117



Internal ID9634576
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:231672114..232141148hg38UCSC Ensembl
Innerchr2:232536825..233005858hg19UCSC Ensembl
Innerchr2:232245069..232714102hg18UCSC Ensembl
Innerchr2:232362330..232831363hg17UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg38469035
hg19469034
hg18469034
hg17469034
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2757849
SamplesNA18503, NA19012, NA11881, NA18621, NA19207, NA18863, NA12043, NA19152, NA18861, NA12750, NA18594, NA18951, NA19192, NA18914, NA12802, NA12801, NA18523, NA18975, NA07056, NA19209, NA18501, NA18500, NA10839, NA18550, NA19223, NA10847, NA18545, NA18603, NA18948, NA18516, NA12813, NA19203, NA18521, NA18529, NA07019, NA18855, NA07348, NA07029, NA18524, NA18965, NA18505, NA12044, NA19208, NA18506, NA18862, NA18949, NA18632, NA12865, NA19140, NA19161, NA12763, NA18912, NA19211, NA18998, NA18624, NA18508, NA18992, NA18635, NA18576, NA18622, NA18960, NA18563, NA07345, NA07357, NA18623, NA12873, NA18991, NA12814, NA12740, NA07048, NA18547, NA18976, NA18637, NA18973, NA18593, NA19100, NA12234, NA12144, NA12006, NA19000, NA12239, NA19153, NA12716, NA18515, NA12892, NA19094, NA19103, NA06985, NA18522, NA19238, NA18558, NA19154, NA18504, NA18564, NA18858, NA18961, NA18997, NA19221, NA18562, NA19131, NA19159, NA18579, NA18945, NA19141, NA12891, NA18987, NA18582, NA18999, NA10857, NA12146, NA10860, NA18995, NA18857, NA12156, NA18971, NA19132, NA10830, NA18577, NA19099, NA07022, NA12878, NA11830, NA11992, NA12003, NA11993, NA19160, NA18611, NA11829, NA12236, NA12874, NA18853, NA18981, NA18913, NA19092, NA18555, NA19200, NA19007, NA19202
Known GenesCOPS7B, DIS3L2, MIR1244-1, MIR1244-2, MIR1244-3, MIR1471, NPPC, PDE6D, PTMA
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)esv2759117
Frequency
Sample Size270
Observed Gain1
Observed Loss137
Observed Complex0
Frequencyn/a


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