A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7018812



Internal ID10347199
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:82415274..82458908hg38UCSC Ensembl
Innerchr10:84175030..84218664hg19UCSC Ensembl
Innerchr10:84165010..84208644hg18UCSC Ensembl
Cytoband10q23.1
Allele length
AssemblyAllele length
hg3843635
hg1943635
hg1843635
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2760161
Supporting Variants
SamplesRW_0555
Known GenesNRG3
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)essv7018812
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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