A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3596342



Internal ID6983659
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:61430342..61431132hg38UCSC Ensembl
Innerchr3:61430342..61431132hg38UCSC Ensembl
Outerchr3:61429978..61431526hg38UCSC Ensembl
chr3:61416016..61416806hg19UCSC Ensembl
Innerchr3:61416016..61416806hg19UCSC Ensembl
Outerchr3:61415652..61417200hg19UCSC Ensembl
Cytoband3p14.2
Allele length
AssemblyAllele length
hg38791
hg19791
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11026123, essv11026126, essv11026106, essv11026110, essv11026116, essv11026130, essv11026115, essv11026117, essv11026129, essv11026118, essv11026112, essv11026119, essv11026104, essv11026121, essv11026128, essv11026122, essv11026113, essv11026124, essv11026125, essv11026108, essv11026114, essv11026127, essv11026111, essv11026109, essv11026105, essv11026107, essv11026120
SamplesHG00151, HG00115, HG02312, HG00109, HG01766, HG00129, HG01063, NA20812, HG01121, HG00176, NA20809, HG00263, NA19788, HG01630, NA11894, HG03974, HG01396, NA07051, NA20785, NA20530, HG00237, HG00107, HG04080, HG01770, NA12749, HG00252, NA20502
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3596342
Frequency
Sample Size2504
Observed Gain0
Observed Loss27
Observed Complex0
Frequencyn/a


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