A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3386511



Internal ID15233480
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:81639408..81639693hg38UCSC Ensembl
Innerchr6:81639408..81639693hg38UCSC Ensembl
Outerchr6:81638610..81640040hg38UCSC Ensembl
chr6:82349125..82349410hg19UCSC Ensembl
Innerchr6:82349125..82349410hg19UCSC Ensembl
Outerchr6:82348327..82349757hg19UCSC Ensembl
chr6:82405844..82406129hg18UCSC Ensembl
Innerchr6:82405844..82406129hg18UCSC Ensembl
Outerchr6:82405046..82406476hg18UCSC Ensembl
Cytoband6q14.1
Allele length
AssemblyAllele length
hg38286
hg19286
hg18286
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8652347
SamplesNA19240
Known Genes
MethodSequencing
Analysis
PlatformSOLiD
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3386511
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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