A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2760547



Internal ID10376855
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:223113543..223113940hg38UCSC Ensembl
Innerchr2:223978261..223978658hg19UCSC Ensembl
Innerchr2:223686505..223686902hg18UCSC Ensembl
Cytoband2q36.1
Allele length
AssemblyAllele length
hg38398
hg19398
hg18398
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7008639, essv7008640
SamplesRW_0622, RW_0621
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)esv2760547
Frequency
Sample Size1109
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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