A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7032479



Internal ID10015485
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:103560166..103621165hg38UCSC Ensembl
Innerchr1:104102788..104163787hg19UCSC Ensembl
Innerchr1:103904311..103965310hg18UCSC Ensembl
Cytoband1p21.1
Allele length
AssemblyAllele length
hg3861000
hg1961000
hg1861000
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2763658
Supporting Variants
SamplesSW_1028
Known GenesACTG1P4, AMY2A, AMY2B
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)essv7032479
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