A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7023685



Internal ID10336643
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:19934328..19959168hg38UCSC Ensembl
Innerchr16:19945650..19970490hg19UCSC Ensembl
Innerchr16:19853151..19877991hg18UCSC Ensembl
Cytoband16p12.3
Allele length
AssemblyAllele length
hg3824841
hg1924841
hg1824841
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2760438
Supporting Variants
SamplesRW_0134
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)essv7023685
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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