A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7013245



Internal ID10006645
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:50610356..51126248hg38UCSC Ensembl
Innerchr2:50837494..51353386hg19UCSC Ensembl
Innerchr2:50690998..51206890hg18UCSC Ensembl
Cytoband2p16.3
Allele length
AssemblyAllele length
hg38515893
hg19515893
hg18515893
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2763321
Supporting Variants
SamplesSW_0101
Known GenesNRXN1
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)essv7013245
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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