A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7024393



Internal ID10339538
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:37450343..37470414hg38UCSC Ensembl
Innerchr17:35810445..35830518hg19UCSC Ensembl
Innerchr17:32884558..32904631hg18UCSC Ensembl
Cytoband17q12
Allele length
AssemblyAllele length
hg3820072
hg1920074
hg1820074
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2763164
Supporting Variants
SamplesRW_0202
Known GenesTADA2A
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)essv7024393
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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