A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2758255



Internal ID9633714
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:5709147..5949487hg38UCSC Ensembl
Innerchr11:5730377..5970717hg19UCSC Ensembl
Innerchr11:5686953..5927293hg18UCSC Ensembl
Innerchr11:5686953..5927293hg17UCSC Ensembl
Cytoband11p15.4
Allele length
AssemblyAllele length
hg38240341
hg19240341
hg18240341
hg17240341
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv2759801
Supporting Variantsessv10556, essv15837, essv9640, essv6178, essv15337
SamplesNA19141, NA18862, NA18532, NA19240, NA19223
Known GenesOR52E4, OR52E6, OR52E8, OR52N1, OR52N2, OR52N4, OR52N5, OR56A3, OR56B1, TRIM22
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)esv2758255
Frequency
Sample Size270
Observed Gain1
Observed Loss4
Observed Complex0
Frequencyn/a


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