A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2762686



Internal ID10375484
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:77997557..78337202hg38UCSC Ensembl
Innerchr2:78224683..78564328hg19UCSC Ensembl
Innerchr2:78078191..78417836hg18UCSC Ensembl
Cytoband2p12
Allele length
AssemblyAllele length
hg38339646
hg19339646
hg18339646
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7014844
SamplesSW_0062
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)esv2762686
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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