A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7009711



Internal ID10352456
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:13062181..13140124hg38UCSC Ensembl
Innerchr2:13202306..13280249hg19UCSC Ensembl
Innerchr2:13119757..13197700hg18UCSC Ensembl
Cytoband2p24.3
Allele length
AssemblyAllele length
hg3877944
hg1977944
hg1877944
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2763376
Supporting Variants
SamplesSW_0048
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)essv7009711
Frequency
Sample Size1109
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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