A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7023631



Internal ID9997750
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:18564935..18751134hg38UCSC Ensembl
Innerchr16:18576257..18762456hg19UCSC Ensembl
Innerchr16:18483758..18669957hg18UCSC Ensembl
Cytoband16p12.3
Allele length
AssemblyAllele length
hg38186200
hg19186200
hg18186200
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2760417
Supporting Variants
SamplesRW_0335
Known GenesABCC6P1
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)essv7023631
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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