A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2764036



Internal ID10031386
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+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6991980, essv6991978
SamplesSW_1257, SW_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)esv2764036
Frequency
Sample Size1109
Observed Gain1
Observed Loss1
Observed Complex0
Frequencyn/a


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