A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7001229



Internal ID10008986
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:69942130..70091271hg38UCSC Ensembl
Innerchr16:69976033..70125174hg19UCSC Ensembl
Innerchr16:68533534..68682675hg18UCSC Ensembl
Cytoband16q22.1
Allele length
AssemblyAllele length
hg38149142
hg19149142
hg18149142
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2762188
Supporting Variants
SamplesSW_0269
Known GenesCLEC18A, MIR1972-1, MIR1972-2, PDXDC2P
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)essv7001229
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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