A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12024008



Internal ID1636613
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:114699114..114706783hg38UCSC Ensembl
Innerchr5:114699143..114706754hg38UCSC Ensembl
Outerchr5:114699085..114706812hg38UCSC Ensembl
chr5:114034811..114042480hg19UCSC Ensembl
Innerchr5:114034840..114042451hg19UCSC Ensembl
Outerchr5:114034782..114042509hg19UCSC Ensembl
Cytoband5q22.3
Allele length
AssemblyAllele length
hg387670
hg197670
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3606349
Supporting Variants
SamplesHG01509
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12024008
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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