A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2724388



Internal ID9958690
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:45158839..45161198hg38UCSC Ensembl
Outerchr22:45554720..45557079hg19UCSC Ensembl
Cytoband22q13.31
Allele length
AssemblyAllele length
hg382360
hg192360
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6913820, essv6682675, essv6842831, essv6843716, essv6888879, essv6824793, essv6692589, essv6937475, essv6744831, essv6967660, essv6821012, essv6909892, essv6941578
SamplesSSM036, SSM027, SSM079, SSM084, SSM021, SSM096, SSM014, SSM033, SSM015, SSM078, SSM053, SSM022, SSM010
Known GenesLOC100506714
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)esv2724388
Frequency
Sample Size96
Observed Gain0
Observed Loss13
Observed Complex0
Frequencyn/a


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