A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12050643



Internal ID3465481
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3606670
Supporting Variants
SamplesHG03085
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12050643
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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