A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2678977



Internal ID9945082
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:161113657..161123315hg38UCSC Ensembl
chr5:160540664..160550322hg19UCSC Ensembl
Cytoband5q34
Allele length
AssemblyAllele length
hg389659
hg199659
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6450850, essv6196744, essv6404638, essv5445597, essv6462494, essv6510470, essv5897648, essv5701613
SamplesHG00689, NA18582, NA18990, NA18626, HG00463, HG00578, HG00581, NA18577
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2678977
Frequency
Sample Size1151
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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