A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3542421



Internal ID18396811
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:129628030..129628099hg38UCSC Ensembl
chr7:129267871..129267940hg19UCSC Ensembl
Cytoband7q32.2
Allele length
AssemblyAllele length
hg3870
hg1970
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9741168
Samples
Known GenesNRF1
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3542421
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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