A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7005661



Internal ID9997943
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:103566616..103682946hg38UCSC Ensembl
Innerchr1:104109238..104225568hg19UCSC Ensembl
Innerchr1:103910761..104027091hg18UCSC Ensembl
Cytoband1p21.1
Allele length
AssemblyAllele length
hg38116331
hg19116331
hg18116331
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2764261
Supporting Variants
SamplesRW_0346
Known GenesACTG1P4, AMY1A, AMY1B, AMY1C, 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)essv7005661
Frequency
Sample Size1109
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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