A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11015023



Internal ID4861674
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:53972174..54001502hg38UCSC Ensembl
Innerchr3:53972174..54001502hg38UCSC Ensembl
Outerchr3:53971674..54002002hg38UCSC Ensembl
chr3:54006201..54035529hg19UCSC Ensembl
Innerchr3:54006201..54035529hg19UCSC Ensembl
Outerchr3:54005701..54036029hg19UCSC Ensembl
Cytoband3p21.1
Allele length
AssemblyAllele length
hg3829329
hg1929329
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3596175
Supporting Variants
SamplesNA12283
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11015023
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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