A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3413472



Internal ID15260431
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:122902256..122902851hg38UCSC Ensembl
Innerchr12:122902256..122902851hg38UCSC Ensembl
Outerchr12:122901419..122903771hg38UCSC Ensembl
chr12:123386803..123387398hg19UCSC Ensembl
Innerchr12:123386803..123387398hg19UCSC Ensembl
Outerchr12:123385966..123388318hg19UCSC Ensembl
chr12:121952756..121953351hg18UCSC Ensembl
Innerchr12:121952756..121953351hg18UCSC Ensembl
Outerchr12:121951919..121954271hg18UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg38596
hg19596
hg18596
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8651847
SamplesNA19240
Known Genes
MethodSequencing
Analysis
PlatformSOLiD
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3413472
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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