A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2758252



Internal ID9633711
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:3215282..3780199hg38UCSC Ensembl
Innerchr11:3236512..3801429hg19UCSC Ensembl
Innerchr11:3193088..3758005hg18UCSC Ensembl
Innerchr11:3193088..3758005hg17UCSC Ensembl
Cytoband11p15.4
Allele length
AssemblyAllele length
hg38564918
hg19564918
hg18564918
hg17564918
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv2759796
Supporting Variantsessv10006, essv2193, essv11182, essv17300, essv11023, essv17297, essv12340, essv7019, essv20325, essv10785, essv11657, essv1219, essv14796, essv21528, essv6160, essv11588, essv10166, essv12859, essv11265, essv17093, essv4949, essv9056, essv20916, essv24889, essv16413, essv10265, essv1143, essv22835, essv17085, essv7078, essv19275, essv6615, essv17671, essv1958, essv20407, essv15451, essv10863, essv13654, essv8089, essv11246, essv16909, essv6651, essv5043, essv13894, essv9450, essv3039, essv12839, essv9711, essv24042, essv11751, essv22448, essv21167, essv20645, essv15583, essv22065, essv15994, essv9898, essv7832, essv16486, essv12690, essv12702, essv22645, essv10378, essv13746, essv11847, essv18108, essv13735, essv2992, essv22035, essv5313, essv15516, essv15237, essv21043, essv16283, essv14170, essv6749, essv23535, essv14275, essv3420, essv3227, essv1729, essv5211, essv19234, essv15326, essv3086, essv4709, essv6280, essv16880, essv12188, essv15769, essv14868, essv839, essv23876, essv2005, essv23455, essv24259, essv5738, essv16786
SamplesNA19222, NA11830, NA18621, NA19204, NA18862, NA12814, NA12236, NA19145, NA12004, NA12801, NA18504, NA18959, NA18969, NA18563, NA19127, NA18995, NA10854, NA19119, NA18558, NA19131, NA18960, NA19138, NA18964, NA06993, NA19130, NA18949, NA18611, NA12761, NA19137, NA19172, NA19159, NA18973, NA11993, NA19210, NA12752, NA19120, NA19194, NA19161, NA19205, NA18637, NA18871, NA10838, NA18981, NA19208, NA19221, NA18537, NA10830, NA18856, NA12892, NA19154, NA18532, NA19099, NA19101, NA18523, NA19132, NA10856, NA18593, NA18945, NA18974, NA18576, NA18608, NA19094, NA18914, NA19206, NA06991, NA11881, NA10859, NA19140, NA18913, NA12873, NA19143, NA18501, NA19173, NA19211, NA18636, NA18500, NA18506, NA18854, NA18872, NA18505, NA19139, NA07000, NA18522, NA12154, NA18612, NA18622, NA19153, NA18562, NA18997
Known GenesART1, ART5, CHRNA10, LOC650368, MRGPRE, MRGPRG, MRGPRG-AS1, NUP98, OR7E12P, TRPC2, ZNF195
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)esv2758252
Frequency
Sample Size270
Observed Gain26
Observed Loss72
Observed Complex0
Frequencyn/a


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