A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3596247



Internal ID6983564
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:58373780..58381032hg38UCSC Ensembl
Innerchr3:58373930..58380882hg38UCSC Ensembl
Outerchr3:58373630..58381182hg38UCSC Ensembl
chr3:58359507..58366759hg19UCSC Ensembl
Innerchr3:58359657..58366609hg19UCSC Ensembl
Outerchr3:58359357..58366909hg19UCSC Ensembl
Cytoband3p14.3
Allele length
AssemblyAllele length
hg387253
hg197253
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11021776
SamplesHG01119
Known GenesPXK
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3596247
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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