A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2762162



Internal ID10374960
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:216769439..216792798hg38UCSC Ensembl
Innerchr1:216942781..216966140hg19UCSC Ensembl
Innerchr1:215009404..215032763hg18UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg3823360
hg1923360
hg1823360
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7005645
SamplesSW_1332
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)esv2762162
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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