A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3603281



Internal ID6990313
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:176618047..176669271hg38UCSC Ensembl
Innerchr4:176618061..176669258hg38UCSC Ensembl
Outerchr4:176618034..176669285hg38UCSC Ensembl
chr4:177539198..177590422hg19UCSC Ensembl
Innerchr4:177539212..177590409hg19UCSC Ensembl
Outerchr4:177539185..177590436hg19UCSC Ensembl
Cytoband4q34.3
Allele length
AssemblyAllele length
hg3851225
hg1951225
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11718045, essv11718046, essv11718042, essv11718048, essv11718044, essv11718043, essv11718047
SamplesHG03812, NA21127, NA20875, HG03660, HG03720, HG03238, NA21113
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3603281
Frequency
Sample Size2504
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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