A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2761579



Internal ID10028932
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:21265628..21323831hg38UCSC Ensembl
Innerchr10:21554557..21612760hg19UCSC Ensembl
Innerchr10:21594563..21652766hg18UCSC Ensembl
Cytoband10p12.31
Allele length
AssemblyAllele length
hg3858204
hg1958204
hg1858204
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6994454
SamplesSW_1433
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)esv2761579
Frequency
Sample Size1109
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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