A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7000551



Internal ID10020434
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:16236633..16743769hg38UCSC Ensembl
Innerchr16:16330490..16837626hg19UCSC Ensembl
Innerchr16:16237991..16745127hg18UCSC Ensembl
Cytoband16p12.3
Allele length
AssemblyAllele length
hg38507137
hg19507137
hg18507137
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2762276
Supporting Variants
SamplesSW_1209
Known GenesLOC100288162, MIR3179-1, MIR3179-2, MIR3179-3, MIR3180-1, MIR3180-2, MIR3180-3, MIR6511A-2, MIR6770-2, NOMO3, NPIPA7, NPIPA8, PKD1P1
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)essv7000551
Frequency
Sample Size1109
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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