A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7005664



Internal ID9985439
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:103566616..103725600hg38UCSC Ensembl
Innerchr1:104109238..104268222hg19UCSC Ensembl
Innerchr1:103910761..104069745hg18UCSC Ensembl
Cytoband1p21.1
Allele length
AssemblyAllele length
hg38158985
hg19158985
hg18158985
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2764261
Supporting Variants
SamplesRW_0013
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)essv7005664
Frequency
Sample Size1109
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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