A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3542517



Internal ID18396907
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:139984857..139984946hg38UCSC Ensembl
chr7:139684656..139684745hg19UCSC Ensembl
Cytoband7q34
Allele length
AssemblyAllele length
hg3890
hg1990
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9741264
Samples
Known GenesTBXAS1
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3542517
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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