A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3426047



Internal ID15273004
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:70126287..70126325hg38UCSC Ensembl
Innerchr3:70126286..70126326hg38UCSC Ensembl
Outerchr3:70126237..70126375hg38UCSC Ensembl
chr3:70175438..70175476hg19UCSC Ensembl
Innerchr3:70175437..70175477hg19UCSC Ensembl
Outerchr3:70175388..70175526hg19UCSC Ensembl
chr3:70258128..70258166hg18UCSC Ensembl
Innerchr3:70258167..70258127hg18UCSC Ensembl
Outerchr3:70258078..70258216hg18UCSC Ensembl
Cytoband3p13
Allele length
AssemblyAllele length
hg38864
hg19864
hg18864
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8741106
SamplesNA19240
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3426047
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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