A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3612330



Internal ID6999231
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:14993030..15033515hg38UCSC Ensembl
chr7:15032655..15073140hg19UCSC Ensembl
Cytoband7p21.2
Allele length
AssemblyAllele length
hg3840486
hg1940486
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12685801, essv12685800
SamplesHG01462, HG01632
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3612330
Frequency
Sample Size2504
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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