A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2763127



Internal ID10030477
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:3034108..3067383hg38UCSC Ensembl
Innerchr16:3084109..3117384hg19UCSC Ensembl
Innerchr16:3024110..3057385hg18UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg3833276
hg1933276
hg1833276
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7023574
SamplesRW_0075
Known GenesCCDC64B, IL32, LOC100128770, MMP25
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)esv2763127
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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