A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11010064



Internal ID1011880
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:49882736..49888371hg38UCSC Ensembl
Innerchr3:49882769..49888339hg38UCSC Ensembl
Outerchr3:49882704..49888404hg38UCSC Ensembl
chr3:49920169..49925804hg19UCSC Ensembl
Innerchr3:49920202..49925772hg19UCSC Ensembl
Outerchr3:49920137..49925837hg19UCSC Ensembl
Cytoband3p21.31
Allele length
AssemblyAllele length
hg385636
hg195636
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3596131
Supporting Variants
SamplesNA20527
Known GenesMST1R
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11010064
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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