A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2674286



Internal ID9593705
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:11772152..11773840hg38UCSC Ensembl
chr16:11866008..11867696hg19UCSC Ensembl
Cytoband16p13.13
Allele length
AssemblyAllele length
hg381689
hg191689
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6509073, essv6452576, essv6569678, essv6274305, essv6397347, essv5627716, essv6011801, essv5829404, essv5481386, essv6117915, essv5537581, essv6299634, essv6333179, essv6040136, essv5972110, essv5401965, essv6048957, essv6361767
SamplesNA19904, NA20299, NA19430, HG01167, NA19257, NA19108, NA19236, NA18505, NA18912, NA19982, NA19908, NA19247, NA07346, NA19372, NA19102, NA19119, NA18487, NA19116
Known GenesZC3H7A
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2674286
Frequency
Sample Size1151
Observed Gain0
Observed Loss18
Observed Complex0
Frequencyn/a


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