A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11469308



Internal ID3046532
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3600798
Supporting Variants
SamplesHG02681
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11469308
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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