A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3597613



Internal ID6637881
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:122570126..122575297hg38UCSC Ensembl
Innerchr3:122570138..122575286hg38UCSC Ensembl
Outerchr3:122570115..122575309hg38UCSC Ensembl
chr3:122288973..122294144hg19UCSC Ensembl
Innerchr3:122288985..122294133hg19UCSC Ensembl
Outerchr3:122288962..122294156hg19UCSC Ensembl
Cytoband3q21.1
Allele length
AssemblyAllele length
hg385172
hg195172
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11123275
SamplesNA20589
Known GenesDTX3L
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3597613
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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