A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3421849



Internal ID15268807
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:18469923..18469935hg38UCSC Ensembl
Innerchr6:18469914..18469941hg38UCSC Ensembl
Outerchr6:18469902..18469953hg38UCSC Ensembl
chr6:18470154..18470166hg19UCSC Ensembl
Innerchr6:18470145..18470172hg19UCSC Ensembl
Outerchr6:18470133..18470184hg19UCSC Ensembl
chr6:18578133..18578145hg18UCSC Ensembl
Innerchr6:18578151..18578124hg18UCSC Ensembl
Outerchr6:18578112..18578163hg18UCSC Ensembl
Cytoband6p22.3
Allele length
AssemblyAllele length
hg38289
hg19289
hg18289
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8928097, essv8928089, essv8928087, essv8928106, essv8928101, essv8928103, essv8928098, essv8928092, essv8928093, essv8928086, essv8928088, essv8928094, essv8928104, essv8928090, essv8928099, essv8928096, essv8928100, essv8928109, essv8928095, essv8928108, essv8928105, essv8928085, essv8928107
SamplesNA12717, NA11829, NA10851, NA11931, NA12045, NA12004, NA12750, NA18558, NA11992, NA12761, NA12156, NA12044, NA18973, NA18951, NA12489, NA12003, NA18608, NA18517, NA07051, NA12749, NA18609, NA18552, NA18522
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3421849
Frequency
Sample Size185
Observed Gain23
Observed Loss0
Observed Complex0
Frequencyn/a


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