A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12050562



Internal ID2969339
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:125803433..125830107hg38UCSC Ensembl
Innerchr5:125803433..125830107hg38UCSC Ensembl
Outerchr5:125803246..125830318hg38UCSC Ensembl
chr5:125139126..125165800hg19UCSC Ensembl
Innerchr5:125139126..125165800hg19UCSC Ensembl
Outerchr5:125138939..125166011hg19UCSC Ensembl
Cytoband5q23.2
Allele length
AssemblyAllele length
hg3826675
hg1926675
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3606664
Supporting Variants
SamplesHG02621
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12050562
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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