A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv125n73



Internal ID20148260
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:47449111..47451947hg38UCSC Ensembl
chr3:47490601..47493437hg19UCSC Ensembl
Cytoband3p21.31
Allele length
AssemblyAllele length
hg382837
hg192837
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv955512, nsv954481
SamplesBILGI_BIOE
Known GenesSCAP
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)dgv125n73
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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