A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7008253



Internal ID10331766
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:167402539..167426734hg38UCSC Ensembl
Innerchr2:168259049..168283244hg19UCSC Ensembl
Innerchr2:167967295..167991490hg18UCSC Ensembl
Cytoband2q24.3
Allele length
AssemblyAllele length
hg3824196
hg1924196
hg1824196
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2760556
Supporting Variants
SamplesRW_0006
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)essv7008253
Frequency
Sample Size1109
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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