A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2759848



Internal ID9981993
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 Variants
Supporting Variantsesv2758280
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)esv2759848
Frequency
Sample Size270
Observed Gain39
Observed Loss0
Observed Complex0
Frequencyn/a


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