A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3893428



Internal ID18837562
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:17578563..18040448hg38UCSC Ensembl
Outerchr22:17578563..18040448hg38UCSC Ensembl
Innerchr22:18061337..18523214hg19UCSC Ensembl
Outerchr22:18061337..18523214hg19UCSC Ensembl
Innerchr22:16441337..16903214hg18UCSC Ensembl
Outerchr22:16441337..16903214hg18UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg38461886
hg19461878
hg18461878
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv25781547
Samples
Known GenesATP6V1E1, BCL2L13, BID, FLJ41941, LINC00528, MICAL3, MIR3198-1, MIR648, SLC25A18
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
Comments
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)esv3893428
Frequency
Sample Size3017
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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