A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7006995



Internal ID10336202
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:223446392..223470236hg38UCSC Ensembl
Innerchr1:223619734..223643578hg19UCSC Ensembl
Innerchr1:221686357..221710201hg18UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg3823845
hg1923845
hg1823845
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2764237
Supporting Variants
SamplesRW_0121
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)essv7006995
Frequency
Sample Size1109
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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