A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6992523



Internal ID10364608
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:105591623..105594291hg38UCSC Ensembl
Innerchr1:106134245..106136913hg19UCSC Ensembl
Innerchr1:105935768..105938436hg18UCSC Ensembl
Cytoband1p21.1
Allele length
AssemblyAllele length
hg382669
hg192669
hg182669
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2762187
Supporting Variants
SamplesSW_1111
Known Genes
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)essv6992523
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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