A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7000883



Internal ID10014435
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:32731968..33024687hg38UCSC Ensembl
Innerchr16:32743289..33036008hg19UCSC Ensembl
Innerchr16:32650790..32943509hg18UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg38292720
hg19292720
hg18292720
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2762243
Supporting Variants
SamplesSW_0869
Known GenesSLC6A10P
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)essv7000883
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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