A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12026264



Internal ID574272
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:115390958..115393510hg38UCSC Ensembl
Innerchr5:115390958..115393510hg38UCSC Ensembl
Outerchr5:115390732..115393792hg38UCSC Ensembl
chr5:114726655..114729207hg19UCSC Ensembl
Innerchr5:114726655..114729207hg19UCSC Ensembl
Outerchr5:114726429..114729489hg19UCSC Ensembl
Cytoband5q22.3
Allele length
AssemblyAllele length
hg382553
hg192553
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3606365
Supporting Variants
SamplesHG00252
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12026264
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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