A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12094497



Internal ID5420552
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:149486515..149487397hg38UCSC Ensembl
Innerchr5:149486515..149487397hg38UCSC Ensembl
Outerchr5:149486449..149487561hg38UCSC Ensembl
chr5:148866078..148866960hg19UCSC Ensembl
Innerchr5:148866078..148866960hg19UCSC Ensembl
Outerchr5:148866012..148867124hg19UCSC Ensembl
Cytoband5q32
Allele length
AssemblyAllele length
hg38883
hg19883
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3607143
Supporting Variants
SamplesNA18951
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12094497
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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