A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2761956



Internal ID10374754
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:28254026..28263287hg38UCSC Ensembl
Innerchr17:26581052..26590313hg19UCSC Ensembl
Innerchr17:23605179..23614440hg18UCSC Ensembl
Cytoband17q11.2
Allele length
AssemblyAllele length
hg389262
hg199262
hg189262
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7001866
SamplesSW_0009
Known Genes
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)esv2761956
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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