A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv11622n54



Internal ID20145046
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:139996449..140018347hg38UCSC Ensembl
chr7:139696248..139718147hg19UCSC Ensembl
chr7:139342717..139364616hg18UCSC Ensembl
Cytoband7q34
Allele length
AssemblyAllele length
hg3821899
hg1921900
hg1821900
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv608476, nsv608477
Samples
Known GenesTBXAS1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv11622n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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