A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12134152



Internal ID3379385
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:173174937..173186334hg38UCSC Ensembl
Innerchr5:173174937..173186334hg38UCSC Ensembl
Outerchr5:173174437..173186834hg38UCSC Ensembl
chr5:172601940..172613337hg19UCSC Ensembl
Innerchr5:172601940..172613337hg19UCSC Ensembl
Outerchr5:172601440..172613837hg19UCSC Ensembl
Cytoband5q35.1
Allele length
AssemblyAllele length
hg3811398
hg1911398
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3607610
Supporting Variants
SamplesHG03025
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12134152
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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