A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6999828



Internal ID10016535
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:29266382..29312594hg38UCSC Ensembl
Innerchr15:29558586..29604798hg19UCSC Ensembl
Innerchr15:27345878..27392090hg18UCSC Ensembl
Cytoband15q13.1
Allele length
AssemblyAllele length
hg3846213
hg1946213
hg1846213
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2761859
Supporting Variants
SamplesSW_1066
Known GenesFAM189A1, NDNL2
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)essv6999828
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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