A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2762163



Internal ID10029513
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:216808798..216842283hg38UCSC Ensembl
Innerchr1:216982140..217015625hg19UCSC Ensembl
Innerchr1:215048763..215082248hg18UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg3833486
hg1933486
hg1833486
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7005656
SamplesSW_1180
Known GenesESRRG
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)esv2762163
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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