A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3606612



Internal ID6993547
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:123574908..123575736hg38UCSC Ensembl
Innerchr5:123574958..123575686hg38UCSC Ensembl
Outerchr5:123574858..123575786hg38UCSC Ensembl
chr5:122910602..122911430hg19UCSC Ensembl
Innerchr5:122910652..122911380hg19UCSC Ensembl
Outerchr5:122910552..122911480hg19UCSC Ensembl
Cytoband5q23.2
Allele length
AssemblyAllele length
hg38829
hg19829
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12045391
SamplesNA18541
Known GenesCSNK1G3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3606612
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