A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6991978



Internal ID10008878
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:158465068..158713163hg38UCSC Ensembl
Innerchr7:158257760..158505854hg19UCSC Ensembl
Innerchr7:157950521..158198615hg18UCSC Ensembl
Cytoband7q36.3
Allele length
AssemblyAllele length
hg38248096
hg19248095
hg18248095
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2764036
Supporting Variants
SamplesSW_0254
Known GenesMIR5707, MIR595, NCAPG2, PTPRN2
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)essv6991978
Frequency
Sample Size1109
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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