A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25781547



Internal ID18827441
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:17578563..18040448hg38UCSC Ensembl
Innerchr22:18061337..18523214hg19UCSC Ensembl
Innerchr22:16441337..16903214hg18UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg38461886
hg19461878
hg18461878
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3893428
Supporting Variants
Samples
Known GenesATP6V1E1, BCL2L13, BID, FLJ41941, LINC00528, MICAL3, MIR3198-1, MIR648, SLC25A18
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=118
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25781547
Frequency
Sample Size3017
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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