A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7005693



Internal ID10002469
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:103620877..103725600hg38UCSC Ensembl
Innerchr1:104163499..104268222hg19UCSC Ensembl
Innerchr1:103965022..104069745hg18UCSC Ensembl
Cytoband1p21.1
Allele length
AssemblyAllele length
hg38104724
hg19104724
hg18104724
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2764261
Supporting Variants
SamplesRW_0607
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)essv7005693
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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