A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6061693



Internal ID8912903
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:145522716..146153495hg38UCSC Ensembl
Outerchr2:145522682..146153530hg38UCSC Ensembl
Innerchr2:146280284..146911063hg19UCSC Ensembl
Outerchr2:146280250..146911098hg19UCSC Ensembl
Cytoband2q22.3
Allele length
AssemblyAllele length
hg38630849
hg19630849
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2659557
Supporting Variants
SamplesHG00383
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv6061693
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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