A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2677974



Internal ID9944079
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:166411646..166494002hg38UCSC Ensembl
chr1:166380883..166463239hg19UCSC Ensembl
Cytoband1q24.1
Allele length
AssemblyAllele length
hg3882357
hg1982357
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5816712, essv6204211, essv5604569, essv6339229
SamplesHG00149, HG00269, HG00377, HG01125
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2677974
Frequency
Sample Size1151
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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