A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2658597



Internal ID9924702
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:4730054..4739569hg38UCSC Ensembl
Outerchr2:4730017..4739619hg38UCSC Ensembl
Innerchr2:4777644..4787159hg19UCSC Ensembl
Outerchr2:4777607..4787209hg19UCSC Ensembl
Cytoband2p25.2
Allele length
AssemblyAllele length
hg389603
hg199603
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6266185
SamplesHG00344
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2658597
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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