A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3605254



Internal ID6992277
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:63192603..63199978hg38UCSC Ensembl
Innerchr5:63192653..63199928hg38UCSC Ensembl
Outerchr5:63192517..63200064hg38UCSC Ensembl
chr5:62488430..62495805hg19UCSC Ensembl
Innerchr5:62488480..62495755hg19UCSC Ensembl
Outerchr5:62488344..62495891hg19UCSC Ensembl
Cytoband5q12.1
Allele length
AssemblyAllele length
hg387376
hg197376
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11928743
SamplesHG02982
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3605254
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