A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12031630



Internal ID6964583
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:117619204..117647595hg38UCSC Ensembl
Innerchr5:117619208..117647591hg38UCSC Ensembl
Outerchr5:117619200..117647599hg38UCSC Ensembl
chr5:116954899..116983290hg19UCSC Ensembl
Innerchr5:116954903..116983286hg19UCSC Ensembl
Outerchr5:116954895..116983294hg19UCSC Ensembl
Cytoband5q23.1
Allele length
AssemblyAllele length
hg3828392
hg1928392
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3606431
Supporting Variants
SamplesNA21142
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12031630
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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