A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5704812



Internal ID9075751
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:122464276..122470001hg38UCSC Ensembl
Outerchr2:122464207..122470077hg38UCSC Ensembl
Innerchr2:123221852..123227577hg19UCSC Ensembl
Outerchr2:123221783..123227653hg19UCSC Ensembl
Cytoband2q14.3
Allele length
AssemblyAllele length
hg385871
hg195871
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2675354
Supporting Variants
SamplesHG01051
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5704812
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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