A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12030741



Internal ID2928405
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:117301228..117302579hg38UCSC Ensembl
Innerchr5:117301228..117302579hg38UCSC Ensembl
Outerchr5:117301113..117302721hg38UCSC Ensembl
chr5:116636924..116638275hg19UCSC Ensembl
Innerchr5:116636924..116638275hg19UCSC Ensembl
Outerchr5:116636809..116638417hg19UCSC Ensembl
Cytoband5q23.1
Allele length
AssemblyAllele length
hg381352
hg191352
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3606421
Supporting Variants
SamplesHG02588
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12030741
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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