A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3564811



Internal ID6689507
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:24409618..24416770hg38UCSC Ensembl
Outerchr22:24805586..24812738hg19UCSC Ensembl
Outerchr22:23135586..23142738hg18UCSC Ensembl
Cytoband22q11.23
Allele length
AssemblyAllele length
hg387153
hg197153
hg187153
Variant TypeCNV deletion
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv996036
Supporting Variants
SamplesHuRef
Known GenesSPECC1L, SPECC1L-ADORA2A
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)essv3564811
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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