A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3600624



Internal ID6987666
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:58301045..58316047hg38UCSC Ensembl
Innerchr4:58301045..58316047hg38UCSC Ensembl
Outerchr4:58300748..58316295hg38UCSC Ensembl
chr4:59167211..59182213hg19UCSC Ensembl
Innerchr4:59167211..59182213hg19UCSC Ensembl
Outerchr4:59166914..59182461hg19UCSC Ensembl
Cytoband4q12
Allele length
AssemblyAllele length
hg3815003
hg1915003
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11444892, essv11444894, essv11444893, essv11444891, essv11444890
SamplesNA20508, HG00379, HG00282, HG01791, HG00376
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3600624
Frequency
Sample Size2504
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer