A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5579830



Internal ID8557233
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:25863613..25869233hg38UCSC Ensembl
Outerchr2:25863456..25869404hg38UCSC Ensembl
Innerchr2:26086482..26092102hg19UCSC Ensembl
Outerchr2:26086325..26092273hg19UCSC Ensembl
Cytoband2p23.3
Allele length
AssemblyAllele length
hg385949
hg195949
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2676793
Supporting Variants
SamplesHG00117
Known GenesASXL2
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5579830
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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