A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3600798



Internal ID6987837
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:65724092..65779591hg38UCSC Ensembl
chr4:66589810..66645309hg19UCSC Ensembl
Cytoband4q13.1
Allele length
AssemblyAllele length
hg3855500
hg1955500
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11469304, essv11469310, essv11469302, essv11469309, essv11469307, essv11469311, essv11469303, essv11469312, essv11469308, essv11469306, essv11469305
SamplesNA11931, HG00257, HG01374, NA19669, HG01766, NA19649, HG02682, HG01781, HG02681, HG01479, HG01431
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3600798
Frequency
Sample Size2504
Observed Gain11
Observed Loss0
Observed Complex0
Frequencyn/a


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