A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12078745



Internal ID2080561
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:141267045..141277127hg38UCSC Ensembl
Innerchr5:141267095..141277077hg38UCSC Ensembl
Outerchr5:141266969..141277203hg38UCSC Ensembl
chr5:140646613..140656692hg19UCSC Ensembl
Innerchr5:140646663..140656642hg19UCSC Ensembl
Outerchr5:140646537..140656768hg19UCSC Ensembl
Cytoband5q31.3
Allele length
AssemblyAllele length
hg3810083
hg1910080
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3606978
Supporting Variants
SamplesNA21120
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12078745
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer