A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11899954



Internal ID6525940
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:50462277..50466458hg38UCSC Ensembl
Innerchr5:50462330..50466406hg38UCSC Ensembl
Outerchr5:50462225..50466511hg38UCSC Ensembl
chr5:49758111..49762292hg19UCSC Ensembl
Innerchr5:49758164..49762240hg19UCSC Ensembl
Outerchr5:49758059..49762345hg19UCSC Ensembl
Cytoband5q11.1
Allele length
AssemblyAllele length
hg384182
hg194182
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3605024
Supporting Variants
SamplesNA20543
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11899954
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