A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3598834



Internal ID6639099
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:179134429..179142712hg38UCSC Ensembl
Innerchr3:179134429..179142712hg38UCSC Ensembl
Outerchr3:179133929..179143212hg38UCSC Ensembl
chr3:178852217..178860500hg19UCSC Ensembl
Innerchr3:178852217..178860500hg19UCSC Ensembl
Outerchr3:178851717..178861000hg19UCSC Ensembl
Cytoband3q26.32
Allele length
AssemblyAllele length
hg388284
hg198284
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11244287, essv11244286
SamplesNA20359, NA20362
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3598834
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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