A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11258138



Internal ID3918194
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:186376938..186379010hg38UCSC Ensembl
Innerchr3:186376939..186379009hg38UCSC Ensembl
Outerchr3:186376937..186379011hg38UCSC Ensembl
chr3:186094727..186096799hg19UCSC Ensembl
Innerchr3:186094728..186096798hg19UCSC Ensembl
Outerchr3:186094726..186096800hg19UCSC Ensembl
Cytoband3q27.3
Allele length
AssemblyAllele length
hg382073
hg192073
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3598988
Supporting Variants
SamplesHG03571
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11258138
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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