A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2762366



Internal ID10375164
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:79226621..79241452hg38UCSC Ensembl
Innerchr16:79260518..79275349hg19UCSC Ensembl
Innerchr16:77818019..77832850hg18UCSC Ensembl
Cytoband16q23.1
Allele length
AssemblyAllele length
hg3814832
hg1914832
hg1814832
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7001452, essv7001454, essv7001456, essv7001453, essv7001457
SamplesSW_0030, SW_1263, SW_0860, SW_1476, SW_0211
Known Genes
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)esv2762366
Frequency
Sample Size1109
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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