A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7018740



Internal ID10339217
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:65548165..65554688hg38UCSC Ensembl
Innerchr10:67307923..67314446hg19UCSC Ensembl
Innerchr10:66977929..66984452hg18UCSC Ensembl
Cytoband10q21.3
Allele length
AssemblyAllele length
hg386524
hg196524
hg186524
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2760105
Supporting Variants
SamplesRW_0194
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)essv7018740
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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