A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2761661



Internal ID10374459
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:34492385..34498031hg38UCSC Ensembl
Innerchr11:34513932..34519578hg19UCSC Ensembl
Innerchr11:34470508..34476154hg18UCSC Ensembl
Cytoband11p13
Allele length
AssemblyAllele length
hg385647
hg195647
hg185647
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6995843
SamplesSW_0164
Known GenesELF5
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)esv2761661
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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