A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2671322



Internal ID9937427
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:19977158..19981220hg38UCSC Ensembl
chr16:19988480..19992542hg19UCSC Ensembl
Cytoband16p12.3
Allele length
AssemblyAllele length
hg384063
hg194063
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5709284, essv6504108, essv5919282, essv6151644, essv5991977, essv5882393, essv6433445, essv6556894, essv6519244, essv5535754, essv6000990
SamplesNA19704, NA19057, NA18519, NA19382, NA18489, NA19138, NA18868, NA19235, NA18908, NA19256, NA18873
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2671322
Frequency
Sample Size1151
Observed Gain0
Observed Loss11
Observed Complex0
Frequencyn/a


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