A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3564097



Internal ID18418487
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:75626633..75626689hg38UCSC Ensembl
chr4:76551817..76551873hg19UCSC Ensembl
Cytoband4q21.1
Allele length
AssemblyAllele length
hg3857
hg1957
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9762844
Samples
Known GenesCDKL2
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3564097
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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