A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2761341



Internal ID10028703
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:80627422..80647452hg38UCSC Ensembl
Innerchr7:80256738..80276768hg19UCSC Ensembl
Innerchr7:80094674..80114704hg18UCSC Ensembl
Cytoband7q21.11
Allele length
AssemblyAllele length
hg3820031
hg1920031
hg1820031
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6990931
SamplesSW_0338
Known GenesCD36
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)esv2761341
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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