A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2761903



Internal ID10374701
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:19734658..19792524hg38UCSC Ensembl
Innerchr16:19745980..19803846hg19UCSC Ensembl
Innerchr16:19653481..19711347hg18UCSC Ensembl
Cytoband16p12.3
Allele length
AssemblyAllele length
hg3857867
hg1957867
hg1857867
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7000592
SamplesSW_1026
Known GenesIQCK
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)esv2761903
Frequency
Sample Size1109
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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