A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3599648



Internal ID6986693
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:11487863..11517955hg38UCSC Ensembl
Innerchr4:11487877..11517941hg38UCSC Ensembl
Outerchr4:11487849..11517969hg38UCSC Ensembl
chr4:11489487..11519579hg19UCSC Ensembl
Innerchr4:11489501..11519565hg19UCSC Ensembl
Outerchr4:11489473..11519593hg19UCSC Ensembl
Cytoband4p15.33
Allele length
AssemblyAllele length
hg3830093
hg1930093
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv984e214
Supporting Variantsessv11357072, essv11357073, essv11357074
SamplesHG01188, HG01107, HG01395
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3599648
Frequency
Sample Size2504
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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