A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8695189



Internal ID15051529
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:21277442..21278540hg38UCSC Ensembl
Innerchr6:21277540..21278442hg38UCSC Ensembl
Outerchr6:21276442..21279540hg38UCSC Ensembl
chr6:21277673..21278771hg19UCSC Ensembl
Innerchr6:21277771..21278673hg19UCSC Ensembl
Outerchr6:21276673..21279771hg19UCSC Ensembl
chr6:21385652..21386750hg18UCSC Ensembl
Innerchr6:21386652..21385750hg18UCSC Ensembl
Outerchr6:21384652..21387750hg18UCSC Ensembl
Cytoband6p22.3
Allele length
AssemblyAllele length
hg381099
hg191099
hg181099
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3380404
Supporting Variants
SamplesNA19239
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8695189
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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