A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7000514



Internal ID10366949
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:7862523..7930290hg38UCSC Ensembl
Innerchr16:7912525..7980292hg19UCSC Ensembl
Innerchr16:7852526..7920293hg18UCSC Ensembl
Cytoband16p13.2
Allele length
AssemblyAllele length
hg3867768
hg1967768
hg1867768
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2761900
Supporting Variants
SamplesSW_1203
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)essv7000514
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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