A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2761568



Internal ID10374366
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:4593716..4632807hg38UCSC Ensembl
Innerchr10:4635908..4674999hg19UCSC Ensembl
Innerchr10:4625908..4664999hg18UCSC Ensembl
Cytoband10p15.1
Allele length
AssemblyAllele length
hg3839092
hg1939092
hg1839092
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6994395
SamplesSW_1004
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)esv2761568
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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