A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2724325



Internal ID10307961
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:43822394..43823025hg38UCSC Ensembl
Outerchr22:44218274..44218905hg19UCSC Ensembl
Cytoband22q13.31
Allele length
AssemblyAllele length
hg38632
hg19632
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6967649, essv6703667, essv6937466, essv6933099, essv6961208, essv6941567, essv6852966, essv6843706, essv6909890, essv6972083, essv6793090, essv6773268, essv6921531, essv6797252, essv6801453, essv6717988
SamplesSSM071, SSM027, SSM065, SSM039, SSM028, SSM084, SSM021, SSM026, SSM017, SSM014, SSM086, SSM072, SSM020, SSM022, SSM070, SSM043
Known Genes
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)esv2724325
Frequency
Sample Size96
Observed Gain0
Observed Loss16
Observed Complex0
Frequencyn/a


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