A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2761970



Internal ID10029320
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:61252607..61294673hg38UCSC Ensembl
Innerchr17:59329968..59372034hg19UCSC Ensembl
Innerchr17:56684750..56726816hg18UCSC Ensembl
Cytoband17q23.2
Allele length
AssemblyAllele length
hg3842067
hg1942067
hg1842067
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7002640
SamplesSW_0632
Known GenesBCAS3
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)esv2761970
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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