A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10694574



Internal ID3083277
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:142185392..142193523hg38UCSC Ensembl
Innerchr2:142185418..142193498hg38UCSC Ensembl
Outerchr2:142185367..142193549hg38UCSC Ensembl
chr2:142942961..142951092hg19UCSC Ensembl
Innerchr2:142942987..142951067hg19UCSC Ensembl
Outerchr2:142942936..142951118hg19UCSC Ensembl
Cytoband2q22.2
Allele length
AssemblyAllele length
hg388132
hg198132
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3592729
Supporting Variants
SamplesHG02703
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10694574
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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