A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2761391



Internal ID10374189
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:157353437..157493191hg38UCSC Ensembl
Innerchr7:157146131..157285885hg19UCSC Ensembl
Innerchr7:156838892..156978646hg18UCSC Ensembl
Cytoband7q36.3
Allele length
AssemblyAllele length
hg38139755
hg19139755
hg18139755
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6991974
SamplesSW_1437
Known GenesDNAJB6
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)esv2761391
Frequency
Sample Size1109
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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