A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7005723



Internal ID9993193
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:103678909..103761017hg38UCSC Ensembl
Innerchr1:104221531..104303639hg19UCSC Ensembl
Innerchr1:104023054..104105162hg18UCSC Ensembl
Cytoband1p21.1
Allele length
AssemblyAllele length
hg3882109
hg1982109
hg1882109
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2764261
Supporting Variants
SamplesRW_0210
Known GenesAMY1A, AMY1B, AMY1C
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)essv7005723
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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