A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3391324



Internal ID14891605
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:98974579..98974598hg38UCSC Ensembl
Innerchr12:98974575..98974602hg38UCSC Ensembl
Outerchr12:98974556..98974621hg38UCSC Ensembl
chr12:99368357..99368376hg19UCSC Ensembl
Innerchr12:99368353..99368380hg19UCSC Ensembl
Outerchr12:99368334..99368399hg19UCSC Ensembl
chr12:97892488..97892507hg18UCSC Ensembl
Innerchr12:97892511..97892484hg18UCSC Ensembl
Outerchr12:97892465..97892530hg18UCSC Ensembl
Cytoband12q23.1
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 Variantsessv9659369
SamplesNA07346
Known GenesANKS1B
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3391324
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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