A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11976348



Internal ID3440871
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:90416022..90423525hg38UCSC Ensembl
Innerchr5:90416172..90423375hg38UCSC Ensembl
Outerchr5:90415872..90423675hg38UCSC Ensembl
chr5:89711839..89719342hg19UCSC Ensembl
Innerchr5:89711989..89719192hg19UCSC Ensembl
Outerchr5:89711689..89719492hg19UCSC Ensembl
Cytoband5q14.3
Allele length
AssemblyAllele length
hg387504
hg197504
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3605762
Supporting Variants
SamplesHG03073
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11976348
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