A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3593013



Internal ID6980337
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:155215290..155274227hg38UCSC Ensembl
Innerchr2:155215340..155274177hg38UCSC Ensembl
Outerchr2:155215231..155274286hg38UCSC Ensembl
chr2:156071802..156130739hg19UCSC Ensembl
Innerchr2:156071852..156130689hg19UCSC Ensembl
Outerchr2:156071743..156130798hg19UCSC Ensembl
Cytoband2q24.1
Allele length
AssemblyAllele length
hg3858938
hg1958938
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10720026, essv10720025
SamplesNA19750, HG01992
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3593013
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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