A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2724196



Internal ID10307832
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:36609289..36609900hg38UCSC Ensembl
Outerchr22:37005336..37005947hg19UCSC Ensembl
Cytoband22q12.3
Allele length
AssemblyAllele length
hg38612
hg19612
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6788927, essv6928894, essv6729429, essv6666643, essv6721808, essv6810222, essv6895681, essv6883139, essv6871582, essv6707122, essv6717971, essv6780641, essv6824771, essv6725635, essv6925502, essv6839782, essv6820997, essv6735888, essv6967632, essv6888871, essv6972061
SamplesSSM083, SSM027, SSM075, SSM045, SSM046, SSM079, SSM028, SSM090, SSM018, SSM069, SSM029, SSM096, SSM019, SSM094, SSM067, SSM044, SSM040, SSM078, SSM043, SSM098, SSM049
Known GenesCACNG2
MethodSequencing
AnalysisBreakdancer:4 times standard deviation,VariationHunter:4 times standard deviation and at least 3 supportting reads
PlatformIllumina HiSeq 2000
Comments
ReferenceWong_et_al_2012b
Pubmed ID23290073
Accession Number(s)esv2724196
Frequency
Sample Size96
Observed Gain0
Observed Loss21
Observed Complex0
Frequencyn/a


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