A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3598143



Internal ID6985279
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:149298245..149300578hg38UCSC Ensembl
Innerchr3:149298267..149300557hg38UCSC Ensembl
Outerchr3:149298224..149300600hg38UCSC Ensembl
chr3:149016032..149018365hg19UCSC Ensembl
Innerchr3:149016054..149018344hg19UCSC Ensembl
Outerchr3:149016011..149018387hg19UCSC Ensembl
Cytoband3q25.1
Allele length
AssemblyAllele length
hg382334
hg192334
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11180203, essv11180202
SamplesNA20320, HG02308
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3598143
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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