A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3628615



Internal ID7015439
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:12481707..12484212hg38UCSC Ensembl
Innerchr12:12481721..12484198hg38UCSC Ensembl
Outerchr12:12481693..12484226hg38UCSC Ensembl
chr12:12634641..12637146hg19UCSC Ensembl
Innerchr12:12634655..12637132hg19UCSC Ensembl
Outerchr12:12634627..12637160hg19UCSC Ensembl
Cytoband12p13.2
Allele length
AssemblyAllele length
hg382506
hg192506
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14388800
SamplesNA19984
Known GenesDUSP16
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3628615
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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