A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3341349



Internal ID14841618
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:45884947..45884988hg38UCSC Ensembl
Innerchr6:45884942..45884993hg38UCSC Ensembl
Outerchr6:45884901..45885034hg38UCSC Ensembl
chr6:45852684..45852725hg19UCSC Ensembl
Innerchr6:45852679..45852730hg19UCSC Ensembl
Outerchr6:45852638..45852771hg19UCSC Ensembl
chr6:45960662..45960703hg18UCSC Ensembl
Innerchr6:45960708..45960657hg18UCSC Ensembl
Outerchr6:45960616..45960749hg18UCSC Ensembl
Cytoband6p12.3
Allele length
AssemblyAllele length
hg3863
hg1963
hg1863
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8676435, essv8676436, essv8676437, essv8676434, essv8676438
SamplesNA12891, NA19238, NA19239, NA12878, NA19240
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3341349
Frequency
Sample Size185
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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