A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3613051



Internal ID6999949
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:46929389..46993441hg38UCSC Ensembl
chr7:46968987..47033039hg19UCSC Ensembl
Cytoband7p12.3
Allele length
AssemblyAllele length
hg3864053
hg1964053
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12758772
SamplesHG03300
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3613051
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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