A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12683040



Internal ID1887949
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:11672864..11707265hg38UCSC Ensembl
chr7:11712491..11746892hg19UCSC Ensembl
Cytoband7p21.3
Allele length
AssemblyAllele length
hg3834402
hg1934402
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3612222
Supporting Variants
SamplesHG01777
Known GenesTHSD7A
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12683040
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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