A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9756670



Internal ID18384230
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:19062807..19062865hg38UCSC Ensembl
chr22:19050320..19050378hg19UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg3859
hg1959
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3557923
Supporting Variants
Samples
Known GenesDGCR2
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)essv9756670
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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