A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3606646



Internal ID6646888
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:124993849..125407773hg38UCSC Ensembl
Innerchr5:124994349..125407273hg38UCSC Ensembl
Outerchr5:124992849..125408773hg38UCSC Ensembl
chr5:124329542..124743466hg19UCSC Ensembl
Innerchr5:124330042..124742966hg19UCSC Ensembl
Outerchr5:124328542..124744466hg19UCSC Ensembl
Cytoband5q23.2
Allele length
AssemblyAllele length
hg38413925
hg19413925
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12047924
SamplesHG01495
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3606646
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