A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11821239



Internal ID4753546
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:16998667..17012174hg38UCSC Ensembl
Innerchr5:16999167..17011674hg38UCSC Ensembl
Outerchr5:16997667..17013174hg38UCSC Ensembl
chr5:16998776..17012283hg19UCSC Ensembl
Innerchr5:16999276..17011783hg19UCSC Ensembl
Outerchr5:16997776..17013283hg19UCSC Ensembl
Cytoband5p15.1
Allele length
AssemblyAllele length
hg3813508
hg1913508
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3604146
Supporting Variants
SamplesNA10847
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11821239
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