A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3375124



Internal ID15222099
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:151558029..151558029hg38UCSC Ensembl
Innerchr3:151558028..151558030hg38UCSC Ensembl
Outerchr3:151557969..151558079hg38UCSC Ensembl
chr3:151275817..151275817hg19UCSC Ensembl
Innerchr3:151275816..151275818hg19UCSC Ensembl
Outerchr3:151275757..151275867hg19UCSC Ensembl
chr3:152758507..152758507hg18UCSC Ensembl
Innerchr3:152758508..152758506hg18UCSC Ensembl
Outerchr3:152758447..152758557hg18UCSC Ensembl
Cytoband3q25.1
Allele length
AssemblyAllele length
hg3866
hg1966
hg1866
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8830983
SamplesNA12878
Known Genes
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3375124
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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