A curated catalogue of human genomic structural variation




Variant Details

Variant: esv989250



Internal ID7076064
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:36677685..36677942hg38UCSC Ensembl
chr22:37073731..37073988hg19UCSC Ensembl
chr22:35403677..35403934hg18UCSC Ensembl
Cytoband22q12.3
Allele length
AssemblyAllele length
hg38258
hg19258
hg18258
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3566601
SamplesHuRef
Known GenesCACNG2
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv989250
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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