A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2761906



Internal ID10029256
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:48075816..48091944hg38UCSC Ensembl
Innerchr16:48109727..48125855hg19UCSC Ensembl
Innerchr16:46667228..46683356hg18UCSC Ensembl
Cytoband16q12.1
Allele length
AssemblyAllele length
hg3816129
hg1916129
hg1816129
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7001108
SamplesSW_1166
Known GenesABCC12
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)esv2761906
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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