A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2758064



Internal ID9980141
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:78086163..78483751hg38UCSC Ensembl
Innerchr6:78795880..79193468hg19UCSC Ensembl
Innerchr6:78852599..79250187hg18UCSC Ensembl
Innerchr6:78852599..79250187hg17UCSC Ensembl
Cytoband6q14.1
Allele length
AssemblyAllele length
hg38397589
hg19397589
hg18397589
hg17397589
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv2759447
Supporting Variantsessv24301, essv2836, essv7037, essv18323, essv13475, essv6640, essv16307, essv5105, essv22034, essv320, essv6267, essv15791, essv4681, essv14496, essv22186, essv24925, essv9616, essv16002, essv1389, essv6746, essv10796, essv24835, essv7282, essv5334, essv2212, essv21661, essv18167, essv20947, essv18948, essv10217, essv23486, essv24404, essv17432, essv1512, essv13652, essv12337, essv11923, essv22873, essv14064, essv23046, essv14285, essv11667, essv15800, essv5246, essv21864, essv8850, essv24778, essv2657, essv1624, essv9179, essv6157, essv24081, essv11533, essv417, essv12161, essv13851, essv9081, essv15491, essv10157, essv667, essv11263, essv16127, essv13560, essv17728, essv20575, essv21410, essv16632, essv19516, essv17795, essv3002, essv19435, essv15121, essv12771, essv4652, essv21460, essv7407, essv526, essv13767, essv7544, essv16979, essv9981, essv2085, essv1751, essv4059, essv12551, essv23416, essv1175, essv155, essv85, essv3860, essv25021, essv20095, essv8475, essv14648, essv8939, essv5518, essv3397, essv2520, essv296, essv9342, essv8126, essv7175, essv16773, essv10536, essv4611, essv24662, essv7848, essv22146, essv6696, essv15620, essv22750, essv17283
SamplesNA18998, NA18502, NA19141, NA12717, NA18621, NA11829, NA19204, NA18861, NA18592, NA18508, NA18524, NA18980, NA18545, NA12801, NA12248, NA10857, NA19098, NA18967, NA18563, NA19127, NA19192, NA12812, NA10846, NA10854, NA18635, NA18558, NA18547, NA19131, NA18960, NA18942, NA07048, NA19138, NA19130, NA18949, NA12005, NA07019, NA12044, NA19128, NA10839, NA18975, NA19200, NA19007, NA18951, NA12760, NA19120, NA19194, NA10831, NA19152, NA12872, NA19161, NA18991, NA18529, NA18516, NA11839, NA18981, NA19202, NA19142, NA11840, NA18856, NA18912, NA19154, NA18532, NA18853, NA19099, NA12707, NA19101, NA18523, NA19160, NA19132, NA10856, NA18945, NA12043, NA18608, NA18953, NA19003, NA18978, NA19206, NA18952, NA12864, NA12057, NA10859, NA19240, NA19100, NA19144, NA18594, NA18501, NA12740, NA06994, NA18971, NA19223, NA19173, NA18994, NA19093, NA10860, NA18636, NA18854, NA18872, NA07056, NA18505, NA19129, NA18968, NA18624, NA18623, NA07000, NA12154, NA07034, NA18612, NA18622, NA19153, NA18562, NA18577, 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)esv2758064
Frequency
Sample Size270
Observed Gain107
Observed Loss5
Observed Complex0
Frequencyn/a


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