A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2663969



Internal ID9930074
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:5299219..5302075hg38UCSC Ensembl
chr1:5359279..5362135hg19UCSC Ensembl
Cytoband1p36.32
Allele length
AssemblyAllele length
hg382857
hg192857
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5451969, essv5861421, essv6181377, essv5526874, essv5404073
SamplesNA19319, NA19451, NA18856, HG00638, NA19472
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2663969
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