A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9762870



Internal ID18390430
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:78829767..78829817hg38UCSC Ensembl
chr4:79750921..79750971hg19UCSC Ensembl
Cytoband4q21.21
Allele length
AssemblyAllele length
hg3851
hg1951
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3564123
Supporting Variants
Samples
Known GenesBMP2K
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)essv9762870
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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