A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3596061



Internal ID6983379
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:46508751..46509380hg38UCSC Ensembl
Innerchr3:46508752..46509380hg38UCSC Ensembl
Outerchr3:46508751..46509381hg38UCSC Ensembl
chr3:46550241..46550870hg19UCSC Ensembl
Innerchr3:46550242..46550870hg19UCSC Ensembl
Outerchr3:46550241..46550871hg19UCSC Ensembl
Cytoband3p21.31
Allele length
AssemblyAllele length
hg38630
hg19630
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10998898, essv10998891, essv10998895, essv10998900, essv10998894, essv10998892, essv10998901, essv10998899, essv10998893, essv10998896, essv10998897
SamplesHG03857, HG02058, HG01944, HG02016, HG02087, HG01859, HG01029, HG01811, HG01878, HG02139, HG01805
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3596061
Frequency
Sample Size2504
Observed Gain0
Observed Loss11
Observed Complex0
Frequencyn/a


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