A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3613047



Internal ID6999945
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:46667546..46681411hg38UCSC Ensembl
chr7:46707144..46721009hg19UCSC Ensembl
Cytoband7p12.3
Allele length
AssemblyAllele length
hg3813866
hg1913866
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12758683, essv12758681, essv12758682, essv12758680
SamplesHG00115, HG00117, HG00125, HG00107
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3613047
Frequency
Sample Size2504
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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