A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12123183



Internal ID2468448
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:163793051..163798473hg38UCSC Ensembl
Innerchr5:163793051..163798473hg38UCSC Ensembl
Outerchr5:163792749..163798812hg38UCSC Ensembl
chr5:163220057..163225479hg19UCSC Ensembl
Innerchr5:163220057..163225479hg19UCSC Ensembl
Outerchr5:163219755..163225818hg19UCSC Ensembl
Cytoband5q34
Allele length
AssemblyAllele length
hg385423
hg195423
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3607466
Supporting Variants
SamplesHG02179
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12123183
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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