A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12102877



Internal ID1511532
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:153090525..153091760hg38UCSC Ensembl
Innerchr5:153090525..153091760hg38UCSC Ensembl
Outerchr5:153090234..153092047hg38UCSC Ensembl
chr5:152470085..152471320hg19UCSC Ensembl
Innerchr5:152470085..152471320hg19UCSC Ensembl
Outerchr5:152469794..152471607hg19UCSC Ensembl
Cytoband5q33.1
Allele length
AssemblyAllele length
hg381236
hg191236
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3607216
Supporting Variants
SamplesHG01390
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12102877
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