A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2724121



Internal ID9958422
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:29236934..29239467hg38UCSC Ensembl
Outerchr22:29632923..29635456hg19UCSC Ensembl
Cytoband22q12.2
Allele length
AssemblyAllele length
hg382534
hg192534
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6820991, essv6915496, essv6668798, essv6905936, essv6753383, essv6790376
SamplesSSM013, SSM002, SSM057, SSM001, SSM078, SSM030
Known GenesEMID1
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)esv2724121
Frequency
Sample Size96
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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