A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2758280



Internal ID9980357
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:88711177..88967016hg38UCSC Ensembl
Innerchr11:88444345..88700184hg19UCSC Ensembl
Innerchr11:88083993..88339832hg18UCSC Ensembl
Innerchr11:88083993..88339832hg17UCSC Ensembl
Cytoband11q14.3
Allele length
AssemblyAllele length
hg38255840
hg19255840
hg18255840
hg17255840
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv2759848
Supporting Variantsessv18278, essv142, essv15884, essv13873, essv6609, essv22167, essv22551, essv9089, essv3966, essv13797, essv13100, essv11282, essv9939, essv8727, essv23347, essv5375, essv4400, essv9677, essv9376, essv24760, essv6246, essv22896, essv3060, essv11643, essv9253, essv4722, essv15199, essv22652, essv14364, essv12306, essv15713, essv11741, essv20933, essv3400, essv22243, essv12691, essv19530, essv18994, essv17526
SamplesNA18621, NA19204, NA19145, NA19092, NA12801, NA18504, NA10857, NA12750, NA18563, NA10846, NA12762, NA19138, NA12005, NA18970, NA12044, NA19128, NA12760, NA12752, NA19194, NA18981, NA18573, NA18912, NA19154, NA18853, NA19132, NA18945, NA19094, NA12864, NA18913, NA07348, NA19223, NA10860, NA18636, NA18500, NA18854, NA18852, NA18968, NA19153, NA18620
Known GenesGRM5
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)esv2758280
Frequency
Sample Size270
Observed Gain39
Observed Loss0
Observed Complex0
Frequencyn/a


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