A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9741264



Internal ID18368824
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 StatusS
Merged Variantsesv3542517
Supporting Variants
Samples
Known GenesTBXAS1
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)essv9741264
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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