A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2760414



Internal ID10027777
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:74613897..74707717hg38UCSC Ensembl
Innerchr16:74647795..74741615hg19UCSC Ensembl
Innerchr16:73205296..73299116hg18UCSC Ensembl
Cytoband16q22.3
Allele length
AssemblyAllele length
hg3893821
hg1993821
hg1893821
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7023940, essv7023939, essv7023938
SamplesRW_0087, RW_0146, RW_0149
Known GenesMLKL, RFWD3
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)esv2760414
Frequency
Sample Size1109
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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