A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5595359



Internal ID8843426
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:11878909..11882797hg38UCSC Ensembl
Outerchr2:11878875..11882832hg38UCSC Ensembl
Innerchr2:12019035..12022923hg19UCSC Ensembl
Outerchr2:12019001..12022958hg19UCSC Ensembl
Cytoband2p25.1
Allele length
AssemblyAllele length
hg383958
hg193958
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2656723
Supporting Variants
SamplesHG00280
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5595359
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