A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2763133



Internal ID10030483
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:15977992..15984017hg38UCSC Ensembl
Innerchr16:16071849..16077874hg19UCSC Ensembl
Innerchr16:15979350..15985375hg18UCSC Ensembl
Cytoband16p13.11
Allele length
AssemblyAllele length
hg386026
hg196026
hg186026
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7023617
SamplesRW_0566
Known GenesABCC1
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)esv2763133
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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