A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3591207



Internal ID6978535
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:70341867..70365521hg38UCSC Ensembl
chr2:70568999..70592653hg19UCSC Ensembl
Cytoband2p13.3
Allele length
AssemblyAllele length
hg3823655
hg1923655
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10536694
SamplesHG00590
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3591207
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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