A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2758271



Internal ID9633730
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:55454944..55854408hg38UCSC Ensembl
Innerchr11:55222420..55621884hg19UCSC Ensembl
Innerchr11:54978996..55378460hg18UCSC Ensembl
Innerchr11:54978996..55378460hg17UCSC Ensembl
Cytoband11q11
Allele length
AssemblyAllele length
hg38399465
hg19399465
hg18399465
hg17399465
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv2759828
Supporting Variantsessv24992, essv15072, essv12257, essv28, essv23802, essv10941, essv780, essv3472, essv5508, essv20023, essv13886, essv9676, essv5099, essv567, essv19578, essv21031, essv17979, essv451, essv20181, essv11189, essv5294, essv9202, essv348, essv10123, essv14649, essv21821, essv15227, essv4475, essv1728, essv921, essv11623, essv13066, essv177, essv24692, essv23967, essv4545, essv17565, essv6312, essv15899, essv19461, essv8625, essv7115, essv6187, essv13010, essv22861
SamplesNA18998, NA11829, NA12814, NA18524, NA07048, NA12762, NA19130, NA19128, NA19239, NA19209, NA10839, NA12760, NA12003, NA18956, NA18859, NA18991, NA11839, NA18537, NA19000, NA11840, NA19154, NA18532, NA19101, NA19094, NA18632, NA06991, NA18952, NA12864, NA18913, NA18992, NA12763, NA18971, NA19223, NA19211, NA19093, NA18609, NA18854, NA18552, NA18852, NA19129, NA18968, NA18624, NA18577, NA11832, NA18997
Known GenesOR4C11, OR4C15, OR4C16, OR4C6, OR4P4, OR4S2, OR5D13, OR5D14, OR5D16, OR5D18, OR5L1, OR5L2
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)esv2758271
Frequency
Sample Size270
Observed Gain0
Observed Loss45
Observed Complex0
Frequencyn/a


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