A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12035207



Internal ID1259300
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:119670577..119684701hg38UCSC Ensembl
Innerchr5:119670577..119684701hg38UCSC Ensembl
Outerchr5:119670077..119685201hg38UCSC Ensembl
chr5:119006272..119020396hg19UCSC Ensembl
Innerchr5:119006272..119020396hg19UCSC Ensembl
Outerchr5:119005772..119020896hg19UCSC Ensembl
Cytoband5q23.1
Allele length
AssemblyAllele length
hg3814125
hg1914125
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3606494
Supporting Variants
SamplesHG01108
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12035207
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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