A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3344212



Internal ID14844479
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:151754770..151754770hg38UCSC Ensembl
Innerchr6:151754769..151754771hg38UCSC Ensembl
Outerchr6:151754710..151754820hg38UCSC Ensembl
chr6:152075905..152075905hg19UCSC Ensembl
Innerchr6:152075904..152075906hg19UCSC Ensembl
Outerchr6:152075845..152075955hg19UCSC Ensembl
chr6:152117598..152117598hg18UCSC Ensembl
Innerchr6:152117599..152117597hg18UCSC Ensembl
Outerchr6:152117538..152117648hg18UCSC Ensembl
Cytoband6q25.1
Allele length
AssemblyAllele length
hg3892
hg1992
hg1892
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8837677
SamplesNA12878
Known GenesESR1
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3344212
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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