A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2677475



Internal ID9596894
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:4293125..4294229hg38UCSC Ensembl
chr19:4293122..4294226hg19UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg381105
hg191105
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6165455, essv6514879, essv6238472, essv6240813, essv5534050
SamplesHG00689, NA19397, NA20341, NA19393, NA19350
Known GenesTMIGD2
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2677475
Frequency
Sample Size1151
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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