A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3596343



Internal ID6983660
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:61492594..61507136hg38UCSC Ensembl
Innerchr3:61492597..61507133hg38UCSC Ensembl
Outerchr3:61492591..61507139hg38UCSC Ensembl
chr3:61478268..61492810hg19UCSC Ensembl
Innerchr3:61478271..61492807hg19UCSC Ensembl
Outerchr3:61478265..61492813hg19UCSC Ensembl
Cytoband3p14.2
Allele length
AssemblyAllele length
hg3814543
hg1914543
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11026131, essv11026132
SamplesHG00235, HG00256
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3596343
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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