A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7005676



Internal ID9991068
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:103613021..103697364hg38UCSC Ensembl
Innerchr1:104155643..104239986hg19UCSC Ensembl
Innerchr1:103957166..104041509hg18UCSC Ensembl
Cytoband1p21.1
Allele length
AssemblyAllele length
hg3884344
hg1984344
hg1884344
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2764261
Supporting Variants
SamplesRW_0166
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)essv7005676
Frequency
Sample Size1109
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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