A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3599512



Internal ID6986558
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:6893042..6894268hg38UCSC Ensembl
Innerchr4:6893060..6894250hg38UCSC Ensembl
Outerchr4:6893024..6894286hg38UCSC Ensembl
chr4:6894769..6895995hg19UCSC Ensembl
Innerchr4:6894787..6895977hg19UCSC Ensembl
Outerchr4:6894751..6896013hg19UCSC Ensembl
Cytoband4p16.1
Allele length
AssemblyAllele length
hg381227
hg191227
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11330352, essv11330358, essv11330356, essv11330359, essv11330351, essv11330357, essv11330354, essv11330353, essv11330355
SamplesNA21097, HG02648, HG01354, HG00369, HG00253, NA12878, HG02649, HG03238, NA21125
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3599512
Frequency
Sample Size2504
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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