A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2674770



Internal ID9594189
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:38916201..38916947hg38UCSC Ensembl
chr20:37544844..37545590hg19UCSC Ensembl
Cytoband20q11.23
Allele length
AssemblyAllele length
hg38747
hg19747
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6046707, essv6304735, essv5935098, essv6535248, essv6144982, essv5789842, essv6333402, essv5633696
SamplesNA19084, NA18632, NA18539, NA19055, NA18606, HG00608, HG00442, NA19079
Known GenesPPP1R16B
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2674770
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