A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3606952



Internal ID6993887
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:140624562..140626708hg38UCSC Ensembl
Innerchr5:140624562..140626708hg38UCSC Ensembl
Outerchr5:140624451..140626846hg38UCSC Ensembl
chr5:140004147..140006293hg19UCSC Ensembl
Innerchr5:140004147..140006293hg19UCSC Ensembl
Outerchr5:140004036..140006431hg19UCSC Ensembl
Cytoband5q31.3
Allele length
AssemblyAllele length
hg382147
hg192147
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12076779
SamplesNA12341
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3606952
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