A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12116478



Internal ID3345699
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:160000638..160003411hg38UCSC Ensembl
Innerchr5:160000641..160003408hg38UCSC Ensembl
Outerchr5:160000635..160003414hg38UCSC Ensembl
chr5:159427645..159430418hg19UCSC Ensembl
Innerchr5:159427648..159430415hg19UCSC Ensembl
Outerchr5:159427642..159430421hg19UCSC Ensembl
Cytoband5q33.3
Allele length
AssemblyAllele length
hg382774
hg192774
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3607359
Supporting Variants
SamplesHG02982
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12116478
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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