A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3605089



Internal ID6992117
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:54568736..54575025hg38UCSC Ensembl
chr5:53864566..53870855hg19UCSC Ensembl
Cytoband5q11.2
Allele length
AssemblyAllele length
hg386290
hg196290
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11904010, essv11904014, essv11904009, essv11904011, essv11904015, essv11904008, essv11904006, essv11904013, essv11904007, essv11904012
SamplesHG03514, HG02574, NA19028, HG01893, HG02561, NA18864, HG02449, HG03124, HG03085, NA19320
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3605089
Frequency
Sample Size2504
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer