A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7018283



Internal ID10339437
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:31967506..31983063hg38UCSC Ensembl
Innerchr10:32256434..32271991hg19UCSC Ensembl
Innerchr10:32296440..32311997hg18UCSC Ensembl
Cytoband10p11.22
Allele length
AssemblyAllele length
hg3815558
hg1915558
hg1815558
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2760088
Supporting Variants
SamplesRW_0200
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)essv7018283
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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