A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2761585



Internal ID10028938
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:26721772..26737083hg38UCSC Ensembl
Innerchr10:27010701..27026012hg19UCSC Ensembl
Innerchr10:27050707..27066018hg18UCSC Ensembl
Cytoband10p12.1
Allele length
AssemblyAllele length
hg3815312
hg1915312
hg1815312
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6994590
SamplesSW_1027
Known GenesPDSS1
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)esv2761585
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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