A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7013267



Internal ID10014535
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:50686921..50839693hg38UCSC Ensembl
Innerchr2:50914059..51066831hg19UCSC Ensembl
Innerchr2:50767563..50920335hg18UCSC Ensembl
Cytoband2p16.3
Allele length
AssemblyAllele length
hg38152773
hg19152773
hg18152773
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2763321
Supporting Variants
SamplesSW_0873
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)essv7013267
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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