A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2678853



Internal ID9944958
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:171324044..171325705hg38UCSC Ensembl
chr3:171041833..171043494hg19UCSC Ensembl
Cytoband3q26.31
Allele length
AssemblyAllele length
hg381662
hg191662
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6029245, essv6546870, essv6367272, essv5631374, essv5831302, essv6237998
SamplesNA20766, NA20805, HG00117, NA20542, HG00174, HG01061
Known GenesTNIK
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2678853
Frequency
Sample Size1151
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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