A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2761944



Internal ID10029294
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:6872184..6952241hg38UCSC Ensembl
Innerchr17:6775503..6855560hg19UCSC Ensembl
Innerchr17:6716227..6796284hg18UCSC Ensembl
Cytoband17p13.1
Allele length
AssemblyAllele length
hg3880058
hg1980058
hg1880058
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7001517
SamplesSW_1463
Known GenesALOX12P2
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)esv2761944
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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