A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9763027



Internal ID18390587
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 StatusS
Merged Variantsesv3564280
Supporting Variants
Samples
Known GenesBMPR1B
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)essv9763027
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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