A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7008630



Internal ID9985855
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:217782397..217830379hg38UCSC Ensembl
Innerchr2:218647120..218695102hg19UCSC Ensembl
Innerchr2:218355365..218403347hg18UCSC Ensembl
Cytoband2q35
Allele length
AssemblyAllele length
hg3847983
hg1947983
hg1847983
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2760585
Supporting Variants
SamplesRW_0023
Known GenesTNS1
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)essv7008630
Frequency
Sample Size1109
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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