A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11841843



Internal ID4051875
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:23462169..23470931hg38UCSC Ensembl
Innerchr5:23462209..23470891hg38UCSC Ensembl
Outerchr5:23462129..23470971hg38UCSC Ensembl
chr5:23462278..23471040hg19UCSC Ensembl
Innerchr5:23462318..23471000hg19UCSC Ensembl
Outerchr5:23462238..23471080hg19UCSC Ensembl
Cytoband5p14.2
Allele length
AssemblyAllele length
hg388763
hg198763
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3604375
Supporting Variants
SamplesHG03693
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11841843
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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