A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7000940



Internal ID10008030
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:33533750..33999516hg38UCSC Ensembl
Innerchr16:33336217..33801983hg19UCSC Ensembl
Innerchr16:33243718..33709484hg18UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg38465767
hg19465767
hg18465767
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2762243
Supporting Variants
SamplesSW_0187
Known GenesRNU6-76P
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)essv7000940
Frequency
Sample Size1109
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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