A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3606670



Internal ID6993605
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:126060539..126064271hg38UCSC Ensembl
Innerchr5:126060553..126064258hg38UCSC Ensembl
Outerchr5:126060526..126064285hg38UCSC Ensembl
chr5:125396232..125399964hg19UCSC Ensembl
Innerchr5:125396246..125399951hg19UCSC Ensembl
Outerchr5:125396219..125399978hg19UCSC Ensembl
Cytoband5q23.2
Allele length
AssemblyAllele length
hg383733
hg193733
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12050644, essv12050639, essv12050642, essv12050641, essv12050645, essv12050638, essv12050640, essv12050643
SamplesHG02703, HG02879, HG03085, HG02799, NA19454, HG02646, HG02462, NA19429
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3606670
Frequency
Sample Size2504
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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