A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3599785



Internal ID6986830
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:18120813..18129884hg38UCSC Ensembl
Innerchr4:18121313..18129384hg38UCSC Ensembl
Outerchr4:18119813..18130884hg38UCSC Ensembl
chr4:18122436..18131507hg19UCSC Ensembl
Innerchr4:18122936..18131007hg19UCSC Ensembl
Outerchr4:18121436..18132507hg19UCSC Ensembl
Cytoband4p15.31
Allele length
AssemblyAllele length
hg389072
hg199072
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11361135, essv11361140, essv11361137, essv11361139, essv11361141, essv11361138, essv11361136
SamplesHG03731, HG03603, HG03885, HG03949, HG03729, HG04014, HG03989
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3599785
Frequency
Sample Size2504
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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