A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3564280



Internal ID18418670
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:94832049..94832130hg38UCSC Ensembl
chr4:95753200..95753281hg19UCSC Ensembl
Cytoband4q22.3
Allele length
AssemblyAllele length
hg3882
hg1982
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9763027
Samples
Known GenesBMPR1B
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3564280
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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