A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2678515



Internal ID9597934
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:46753848..46809518hg38UCSC Ensembl
chr3:46795338..46851008hg19UCSC Ensembl
Cytoband3p21.31
Allele length
AssemblyAllele length
hg3855671
hg1955671
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv860e199
Supporting Variantsessv5479721, essv5622323, essv5530531, essv5524727, essv5411604, essv5520446, essv6051012, essv5903733, essv6543086, essv6213995, essv5491447, essv6583844, essv5739839, essv6331863, essv6291764, essv5989661, essv6365642, essv5894564, essv5526103, essv6376316, essv6198650, essv6288314, essv5767256, essv6443756, essv5798649, essv5900306, essv5560398, essv5613528, essv6131513, essv6246505
SamplesNA19700, NA19055, NA19909, NA19466, HG00318, NA19350, HG00330, NA19457, NA19313, HG01083, NA19681, NA19130, NA18874, NA18868, HG00149, NA19707, NA19455, NA19663, HG01073, NA19449, NA19440, NA19712, NA19434, NA19444, NA19835, HG00237, NA19713, NA19213, NA19312, NA19429
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2678515
Frequency
Sample Size1151
Observed Gain0
Observed Loss30
Observed Complex0
Frequencyn/a


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