A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3606405



Internal ID6993341
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:116795680..116800795hg38UCSC Ensembl
Innerchr5:116795830..116800645hg38UCSC Ensembl
Outerchr5:116795530..116800945hg38UCSC Ensembl
chr5:116131376..116136491hg19UCSC Ensembl
Innerchr5:116131526..116136341hg19UCSC Ensembl
Outerchr5:116131226..116136641hg19UCSC Ensembl
Cytoband5q23.1
Allele length
AssemblyAllele length
hg385116
hg195116
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12030618
SamplesNA19086
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3606405
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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