A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2677324



Internal ID9943429
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:31102238..31104364hg38UCSC Ensembl
Outerchr1:31102081..31104517hg38UCSC Ensembl
Innerchr1:31575085..31577211hg19UCSC Ensembl
Outerchr1:31574928..31577364hg19UCSC Ensembl
Cytoband1p35.2
Allele length
AssemblyAllele length
hg382437
hg192437
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5721549, essv5989969, essv5616564, essv5975278, essv5483898, essv6553018
SamplesNA11933, HG00367, NA12413, HG01080, HG00282, HG01101
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2677324
Frequency
Sample Size1151
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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