A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2760416



Internal ID10027779
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:14741210..15022400hg38UCSC Ensembl
Innerchr16:14835067..15116257hg19UCSC Ensembl
Innerchr16:14742568..15023758hg18UCSC Ensembl
Cytoband16p13.11
Allele length
AssemblyAllele length
hg38281191
hg19281191
hg18281191
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7023600, essv7023603, essv7023601, essv7023607, essv7023605, essv7023602, essv7023606, essv7023604
SamplesRW_0021, RW_0623, RW_0506, RW_0158, RW_0526, RW_0214, RW_0230, RW_0349
Known GenesABCC6P2, LOC100288162, MIR1972-1, MIR1972-2, MIR3179-1, MIR3179-2, MIR3179-3, MIR3180-1, MIR3180-2, MIR3180-3, MIR6511A-2, MIR6770-2, NOMO1, NPIPA1, NPIPA2, NPIPA3, PDXDC1
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)esv2760416
Frequency
Sample Size1109
Observed Gain2
Observed Loss6
Observed Complex0
Frequencyn/a


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