A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11920815



Internal ID2252744
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:58466122..58467184hg38UCSC Ensembl
Innerchr5:58466155..58467152hg38UCSC Ensembl
Outerchr5:58466090..58467217hg38UCSC Ensembl
chr5:57761949..57763011hg19UCSC Ensembl
Innerchr5:57761982..57762979hg19UCSC Ensembl
Outerchr5:57761917..57763044hg19UCSC Ensembl
Cytoband5q11.2
Allele length
AssemblyAllele length
hg381063
hg191063
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3605157
Supporting Variants
SamplesHG02016
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11920815
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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