A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2758272



Internal ID9633731
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:58932619..59241200hg38UCSC Ensembl
Innerchr11:58700092..59008673hg19UCSC Ensembl
Innerchr11:58456668..58765249hg18UCSC Ensembl
Innerchr11:58456668..58765249hg17UCSC Ensembl
Cytoband11q12.1
Allele length
AssemblyAllele length
hg38308582
hg19308582
hg18308582
hg17308582
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv2759830
Supporting Variantsessv9867, essv9182, essv7101, essv12563, essv14279, essv7214, essv10489, essv1786, essv24802, essv17034, essv13655, essv2527, essv4091, essv87, essv1159, essv11208, essv5413, essv8424, essv8178, essv4440, essv16364, essv6643, essv2022
SamplesNA18621, NA19204, NA19145, NA19098, NA18563, NA19119, NA18635, NA18547, NA18949, NA19128, NA18951, NA19194, NA18515, NA18991, NA18516, NA18537, NA19003, NA19206, NA19144, NA19193, NA10860, NA18552, NA18997
Known GenesDTX4, FAM111A, FAM111B, GLYATL1, LOC283194, MPEG1
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)esv2758272
Frequency
Sample Size270
Observed Gain23
Observed Loss0
Observed Complex0
Frequencyn/a


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