A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3594084



Internal ID6981404
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:207362274..207367201hg38UCSC Ensembl
Innerchr2:207362274..207367201hg38UCSC Ensembl
Outerchr2:207362042..207367344hg38UCSC Ensembl
chr2:208226998..208231925hg19UCSC Ensembl
Innerchr2:208226998..208231925hg19UCSC Ensembl
Outerchr2:208226766..208232068hg19UCSC Ensembl
Cytoband2q33.3
Allele length
AssemblyAllele length
hg384928
hg194928
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10830377
SamplesNA12341
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3594084
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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