A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12051658



Internal ID2053474
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:127034353..127035004hg38UCSC Ensembl
Innerchr5:127034367..127034990hg38UCSC Ensembl
Outerchr5:127034339..127035018hg38UCSC Ensembl
chr5:126370045..126370696hg19UCSC Ensembl
Innerchr5:126370059..126370682hg19UCSC Ensembl
Outerchr5:126370031..126370710hg19UCSC Ensembl
Cytoband5q23.2
Allele length
AssemblyAllele length
hg38652
hg19652
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3606699
Supporting Variants
SamplesNA18997
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12051658
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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