A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3607247



Internal ID6994181
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:154611196..154614365hg38UCSC Ensembl
Innerchr5:154611208..154614353hg38UCSC Ensembl
Outerchr5:154611184..154614377hg38UCSC Ensembl
chr5:153990756..153993925hg19UCSC Ensembl
Innerchr5:153990768..153993913hg19UCSC Ensembl
Outerchr5:153990744..153993937hg19UCSC Ensembl
Cytoband5q33.2
Allele length
AssemblyAllele length
hg383170
hg193170
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12105364, essv12105365, essv12105366
SamplesHG04222, HG04229, HG03780
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3607247
Frequency
Sample Size2504
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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