A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12147866



Internal ID2630170
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:178313945..178322569hg38UCSC Ensembl
Innerchr5:178313960..178322554hg38UCSC Ensembl
Outerchr5:178313930..178322584hg38UCSC Ensembl
chr5:177740946..177749570hg19UCSC Ensembl
Innerchr5:177740961..177749555hg19UCSC Ensembl
Outerchr5:177740931..177749585hg19UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg388625
hg198625
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3607712
Supporting Variants
SamplesHG02325
Known GenesCOL23A1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12147866
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