A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3600536



Internal ID6987578
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:54141348..54146760hg38UCSC Ensembl
Innerchr4:54141348..54146760hg38UCSC Ensembl
Outerchr4:54141055..54146984hg38UCSC Ensembl
chr4:55007515..55012927hg19UCSC Ensembl
Innerchr4:55007515..55012927hg19UCSC Ensembl
Outerchr4:55007222..55013151hg19UCSC Ensembl
Cytoband4q12
Allele length
AssemblyAllele length
hg385413
hg195413
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11438336, essv11438333, essv11438332, essv11438335, essv11438331, essv11438334, essv11438330
SamplesNA19466, NA19350, NA19393, NA19038, NA19471, NA19206, NA19435
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3600536
Frequency
Sample Size2504
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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