A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2674944



Internal ID9941049
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:16103207..16108691hg38UCSC Ensembl
chr1:16429702..16435186hg19UCSC Ensembl
Cytoband1p36.13
Allele length
AssemblyAllele length
hg385485
hg195485
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5620580, essv5968961, essv5630758, essv5735031, essv6200466, essv5749349, essv5849998, essv5566499, essv6207393, essv6338934, essv6055609, essv6082751, essv5809448, essv5977599
SamplesNA19394, NA19397, HG01083, NA19235, NA19403, NA19462, NA19347, NA19455, HG01390, NA19440, NA19390, NA19434, NA19248, NA19431
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2674944
Frequency
Sample Size1151
Observed Gain0
Observed Loss14
Observed Complex0
Frequencyn/a


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