A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7018187



Internal ID10344373
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:15498754..15512095hg38UCSC Ensembl
Innerchr10:15540753..15554094hg19UCSC Ensembl
Innerchr10:15580759..15594100hg18UCSC Ensembl
Cytoband10p13
Allele length
AssemblyAllele length
hg3813342
hg1913342
hg1813342
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2762847
Supporting Variants
SamplesRW_0333
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)essv7018187
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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