A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3425106



Internal ID15272063
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:92496075..92496094hg38UCSC Ensembl
Innerchr12:92496071..92496098hg38UCSC Ensembl
Outerchr12:92496052..92496117hg38UCSC Ensembl
chr12:92889851..92889870hg19UCSC Ensembl
Innerchr12:92889847..92889874hg19UCSC Ensembl
Outerchr12:92889828..92889893hg19UCSC Ensembl
chr12:91413982..91414001hg18UCSC Ensembl
Innerchr12:91414005..91413978hg18UCSC Ensembl
Outerchr12:91413959..91414024hg18UCSC Ensembl
Cytoband12q22
Allele length
AssemblyAllele length
hg38300
hg19300
hg18300
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8677918
SamplesNA19240
Known Genes
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3425106
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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