A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7864639



Internal ID13317208
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:120353441..120353477hg38UCSC Ensembl
Innerchr6:120353443..120353475hg38UCSC Ensembl
Outerchr6:120353439..120353479hg38UCSC Ensembl
chr6:120674587..120674623hg19UCSC Ensembl
Innerchr6:120674589..120674621hg19UCSC Ensembl
Outerchr6:120674585..120674625hg19UCSC Ensembl
chr6:120716286..120716322hg18UCSC Ensembl
Innerchr6:120716288..120716320hg18UCSC Ensembl
Outerchr6:120716284..120716324hg18UCSC Ensembl
Cytoband6q22.31
Allele length
AssemblyAllele length
hg3859
hg1959
hg1859
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3369178
Supporting Variants
SamplesNA12005
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7864639
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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