A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11851625



Internal ID4197129
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:28746625..28763828hg38UCSC Ensembl
Innerchr5:28746648..28763806hg38UCSC Ensembl
Outerchr5:28746603..28763851hg38UCSC Ensembl
chr5:28746732..28763935hg19UCSC Ensembl
Innerchr5:28746755..28763913hg19UCSC Ensembl
Outerchr5:28746710..28763958hg19UCSC Ensembl
Cytoband5p14.1
Allele length
AssemblyAllele length
hg3817204
hg1917204
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3604517
Supporting Variants
SamplesHG03784
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11851625
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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