A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2759868



Internal ID9635327
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:123408487..123674087hg38UCSC Ensembl
Innerchr11:123279195..123544795hg19UCSC Ensembl
Innerchr11:122784405..123050005hg18UCSC Ensembl
Innerchr11:122784405..123050005hg17UCSC Ensembl
Cytoband11q24.1
Allele length
AssemblyAllele length
hg38265601
hg19265601
hg18265601
hg17265601
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2758287
SamplesNA07048
Known GenesGRAMD1B, SCN3B
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)esv2759868
Frequency
Sample Size270
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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