A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8928085



Internal ID13037327
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 StatusS
Merged Variantsesv3421849
Supporting Variants
SamplesNA07051
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8928085
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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