A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5989800



Internal ID9282412
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:127459002..127460485hg38UCSC Ensembl
Outerchr2:127458965..127460535hg38UCSC Ensembl
Innerchr2:128216578..128218061hg19UCSC Ensembl
Outerchr2:128216541..128218111hg19UCSC Ensembl
Cytoband2q14.3
Allele length
AssemblyAllele length
hg381571
hg191571
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2669207
Supporting Variants
SamplesNA12750
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5989800
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