A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2762924



Internal ID10377635
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:150362575..150376575hg38UCSC Ensembl
Innerchr2:151219089..151233089hg19UCSC Ensembl
Innerchr2:150927335..150941335hg18UCSC Ensembl
Cytoband2q23.3
Allele length
AssemblyAllele length
hg3814001
hg1914001
hg1814001
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7020111
SamplesSW_1290
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)esv2762924
Frequency
Sample Size1109
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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