A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2762054



Internal ID10029404
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:74303138..74473158hg38UCSC Ensembl
Innerchr16:74337036..74507056hg19UCSC Ensembl
Innerchr16:72894537..73064557hg18UCSC Ensembl
Cytoband16q22.3
Allele length
AssemblyAllele length
hg38170021
hg19170021
hg18170021
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7001262, essv7001263, essv7001261
SamplesSW_1436, SW_1480, SW_1213
Known GenesCLEC18B, GLG1, LOC283922, PSMD7
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)esv2762054
Frequency
Sample Size1109
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer