A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3385050



Internal ID14885332
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:94914485..94914551hg38UCSC Ensembl
Innerchr12:94914501..94914535hg38UCSC Ensembl
Outerchr12:94914435..94914601hg38UCSC Ensembl
chr12:95308261..95308327hg19UCSC Ensembl
Innerchr12:95308277..95308311hg19UCSC Ensembl
Outerchr12:95308211..95308377hg19UCSC Ensembl
chr12:93832392..93832458hg18UCSC Ensembl
Innerchr12:93832442..93832408hg18UCSC Ensembl
Outerchr12:93832342..93832508hg18UCSC Ensembl
Cytoband12q22
Allele length
AssemblyAllele length
hg3867
hg1967
hg1867
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8740741
SamplesNA12878
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3385050
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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