A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3605548



Internal ID6645792
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:79757687..80021546hg38UCSC Ensembl
Innerchr5:79757687..80021546hg38UCSC Ensembl
Outerchr5:79757187..80022046hg38UCSC Ensembl
chr5:79053510..79317369hg19UCSC Ensembl
Innerchr5:79053510..79317369hg19UCSC Ensembl
Outerchr5:79053010..79317869hg19UCSC Ensembl
Cytoband5q14.1
Allele length
AssemblyAllele length
hg38263860
hg19263860
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11953068
SamplesHG03372
Known GenesCMYA5, MTX3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3605548
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