A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2763581



Internal ID10030931
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:91603410..91738246hg38UCSC Ensembl
Innerchr1:92068967..92203803hg19UCSC Ensembl
Innerchr1:91841555..91976391hg18UCSC Ensembl
Cytoband1p22.1
Allele length
AssemblyAllele length
hg38134837
hg19134837
hg18134837
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7032401
SamplesSW_1051
Known GenesTGFBR3
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)esv2763581
Frequency
Sample Size1109
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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