A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3599219



Internal ID6986267
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:194839852..194847833hg38UCSC Ensembl
Innerchr3:194839852..194847833hg38UCSC Ensembl
Outerchr3:194839596..194848085hg38UCSC Ensembl
chr3:194560581..194568562hg19UCSC Ensembl
Innerchr3:194560581..194568562hg19UCSC Ensembl
Outerchr3:194560325..194568814hg19UCSC Ensembl
Cytoband3q29
Allele length
AssemblyAllele length
hg387982
hg197982
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11287074, essv11287067, essv11287065, essv11287056, essv11287059, essv11287071, essv11287075, essv11287070, essv11287068, essv11287066, essv11287063, essv11287064, essv11287055, essv11287072, essv11287076, essv11287058, essv11287057, essv11287062, essv11287069, essv11287073, essv11287060, essv11287061
SamplesNA19222, HG01885, NA18923, HG03189, NA19471, HG02943, HG03160, HG02334, HG03311, NA19461, HG03451, NA19338, NA19095, NA18858, HG02308, HG03259, HG03304, HG02107, HG03060, NA20289, NA19030, HG02284
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3599219
Frequency
Sample Size2504
Observed Gain0
Observed Loss22
Observed Complex0
Frequencyn/a


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