A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12105361



Internal ID6829093
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:154594798..154599241hg38UCSC Ensembl
Innerchr5:154594838..154599202hg38UCSC Ensembl
Outerchr5:154594759..154599281hg38UCSC Ensembl
chr5:153974358..153978801hg19UCSC Ensembl
Innerchr5:153974398..153978762hg19UCSC Ensembl
Outerchr5:153974319..153978841hg19UCSC Ensembl
Cytoband5q33.2
Allele length
AssemblyAllele length
hg384444
hg194444
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3607245
Supporting Variants
SamplesNA20903
Known GenesMIR3141
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12105361
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