A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6993861



Internal ID10372408
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:28433222..28539583hg38UCSC Ensembl
Innerchr9:28433220..28539581hg19UCSC Ensembl
Innerchr9:28423220..28529581hg18UCSC Ensembl
Cytoband9p21.1
Allele length
AssemblyAllele length
hg38106362
hg19106362
hg18106362
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2764152
Supporting Variants
SamplesSW_1440
Known GenesLINGO2
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)essv6993861
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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