A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2758072



Internal ID9980149
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:103279946..103457522hg38UCSC Ensembl
Innerchr6:103727821..103905397hg19UCSC Ensembl
Innerchr6:103834514..104012090hg18UCSC Ensembl
Innerchr6:103834514..104012090hg17UCSC Ensembl
Cytoband6q16.3
Allele length
AssemblyAllele length
hg38177577
hg19177577
hg18177577
hg17177577
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv2759460
Supporting Variantsessv17244, essv19272, essv8763, essv20291, essv15463, essv3018, essv13154, essv3898, essv10386, essv1792, essv23791, essv14076, essv12610, essv11672, essv24686, essv12772, essv11171, essv21818, essv65, essv13064, essv13828, essv7834, essv10041, essv23174, essv18078, essv16110, essv15740, essv11949, essv765, essv8611, essv17984, essv8339, essv11443, essv19646, essv11980, essv11042, essv11200, essv20440, essv13005, essv25004, essv10576, essv6253, essv20066, essv3200, essv14151, essv16999, essv15632, essv16903, essv14991, essv10482, essv11852, essv3096, essv23456, essv15063, essv15229, essv16042, essv14377, essv7184, essv4650, essv23340, essv6596, essv18624, essv18247, essv17486, essv12243, essv1383, essv8473, essv15609, essv5150, essv20917, essv10918, essv23461, essv24788, essv1475, essv14494, essv16800, essv23938, essv20563, essv16704, essv14310, essv9129, essv6346, essv18340, essv9727, essv19923, essv22570, essv8094, essv22965, essv21277, essv10629, essv2812, essv15312, essv6189, essv15876, essv16528, essv3455, essv22672, essv19427, essv16444, essv9869, essv24233, essv21768, essv21700, essv3965, essv9473, essv18926, essv16281, essv8322, essv3791, essv12339, essv9629, essv18219, essv13630, essv8796, essv21175, essv1513, essv17042, essv2058, essv11790, essv22068, essv14763, essv3702, essv20322, essv14615, essv22456, essv18451, essv10129, essv20123, essv4676, essv290
SamplesNA18502, NA19141, NA19222, NA11830, NA18621, NA18947, NA11829, NA19204, NA18862, NA18861, NA18508, NA12814, NA18980, NA18855, NA12236, NA18507, NA19145, NA19092, NA12801, NA18504, NA12248, NA19098, NA18870, NA12750, NA07357, NA18969, NA12813, NA19127, NA18944, NA10846, NA10854, NA18860, NA18558, NA18547, NA19131, NA07048, NA12762, NA19138, NA19130, NA18949, NA12761, NA12005, NA18970, NA12156, NA19137, NA11994, NA19172, NA19159, NA10855, NA19239, NA19209, NA10839, NA19007, NA11831, NA19210, NA12752, NA19120, NA19194, NA12003, NA19161, NA18956, NA18859, NA18515, NA19205, NA18991, NA18516, NA19103, NA18503, NA11839, NA10838, NA18981, NA12234, NA19208, NA19221, NA19202, NA19142, NA11840, NA10830, NA18912, NA19154, NA18857, NA18532, NA12239, NA12264, NA12145, NA19099, NA19101, NA07345, NA12144, NA10856, NA18858, NA18974, NA19094, NA18978, NA19206, NA18517, NA18564, NA12057, NA19140, NA18913, NA19240, NA19100, NA19144, NA18992, NA18943, NA07348, NA12763, NA18594, NA19143, NA18501, NA19223, NA18987, NA19211, NA18994, NA19093, NA10860, NA18636, NA18609, NA19102, NA18854, NA18872, NA18852, NA07056, NA18505, NA19129, NA19139, NA12154, NA07034, NA18622, NA18997
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)esv2758072
Frequency
Sample Size270
Observed Gain130
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer