A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2761749



Internal ID10374547
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:73394056..73424728hg38UCSC Ensembl
Innerchr12:73787836..73818508hg19UCSC Ensembl
Innerchr12:72074103..72104775hg18UCSC Ensembl
Cytoband12q21.1
Allele length
AssemblyAllele length
hg3830673
hg1930673
hg1830673
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6997440
SamplesSW_0165
Known Genes
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)esv2761749
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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