A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3542623



Internal ID18397013
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:148866502..148866556hg38UCSC Ensembl
chr7:148563594..148563648hg19UCSC Ensembl
Cytoband7q36.1
Allele length
AssemblyAllele length
hg3855
hg1955
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9741370
Samples
Known GenesEZH2
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3542623
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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