A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3607768



Internal ID6648007
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:180267789..180268738hg38UCSC Ensembl
Innerchr5:180267839..180268688hg38UCSC Ensembl
Outerchr5:180267731..180268796hg38UCSC Ensembl
chr5:179694789..179695738hg19UCSC Ensembl
Innerchr5:179694839..179695688hg19UCSC Ensembl
Outerchr5:179694731..179695796hg19UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg38950
hg19950
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12152221
SamplesHG02102
Known GenesMAPK9
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3607768
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