A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7033400



Internal ID10006176
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:103620877..103761017hg38UCSC Ensembl
Innerchr1:104163499..104303639hg19UCSC Ensembl
Innerchr1:103965022..104105162hg18UCSC Ensembl
Cytoband1p21.1
Allele length
AssemblyAllele length
hg38140141
hg19140141
hg18140141
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2763658
Supporting Variants
SamplesSW_0072
Known GenesAMY1A, AMY1B, AMY1C, AMY2A
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)essv7033400
Frequency
Sample Size1109
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer