A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7018781



Internal ID10003621
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:68441880..68510208hg38UCSC Ensembl
Innerchr10:70201637..70269965hg19UCSC Ensembl
Innerchr10:69871643..69939971hg18UCSC Ensembl
Cytoband10q21.3
Allele length
AssemblyAllele length
hg3868329
hg1968329
hg1868329
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2762871
Supporting Variants
SamplesRW_0636
Known GenesDNA2, SLC25A16
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)essv7018781
Frequency
Sample Size1109
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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