A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2760201



Internal ID10376509
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:56565286..56601039hg38UCSC Ensembl
Innerchr11:56332762..56368515hg19UCSC Ensembl
Innerchr11:56089338..56125091hg18UCSC Ensembl
Cytoband11q11
Allele length
AssemblyAllele length
hg3835754
hg1935754
hg1835754
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7020018, essv7020028, essv7020026, essv7020017, essv7020027, essv7020020, essv7020009, essv7020021, essv7020024, essv7020010, essv7020023, essv7020025, essv7020015, essv7020019, essv7020012, essv7020014, essv7020013, essv7020008, essv7020016
SamplesRW_0520, RW_0258, RW_0566, RW_0297, RW_0226, RW_0025, RW_0357, RW_0112, RW_0302, RW_0587, RW_0140, RW_0249, RW_0667, RW_0048, RW_0275, RW_0215, RW_0154, RW_0613, RW_0277
Known GenesOR5M10
MethodMerging
AnalysisTwo different algorithms (PennCNV and Birdseye) were applied to detect CNVs. Only congruent CNV events regarding direction of effect that were detected by both algorithms were merged using the outer borders of the event in a first step. In a second step only CNVs that were detected in at least two individuals were merged into a CNVR.
PlatformMerging
Comments
ReferenceVogler_et_al_2010
Pubmed ID21179565
Accession Number(s)esv2760201
Frequency
Sample Size1109
Observed Gain0
Observed Loss19
Observed Complex0
Frequencyn/a


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