A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9611391



Internal ID12877077
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:119527440..119527459hg38UCSC Ensembl
Innerchr3:119527436..119527463hg38UCSC Ensembl
Outerchr3:119527417..119527482hg38UCSC Ensembl
chr3:119246287..119246306hg19UCSC Ensembl
Innerchr3:119246283..119246310hg19UCSC Ensembl
Outerchr3:119246264..119246329hg19UCSC Ensembl
chr3:120728977..120728996hg18UCSC Ensembl
Innerchr3:120729000..120728973hg18UCSC Ensembl
Outerchr3:120728954..120729019hg18UCSC Ensembl
Cytoband3q13.33
Allele length
AssemblyAllele length
hg38300
hg19300
hg18300
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3353419
Supporting Variants
SamplesNA11931
Known GenesCD80
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv9611391
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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