A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2724759



Internal ID10308395
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:50225348..50225957hg38UCSC Ensembl
Outerchr22:50663777..50664386hg19UCSC Ensembl
Cytoband22q13.33
Allele length
AssemblyAllele length
hg38610
hg19610
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6815920, essv6913856, essv6675027, essv6783410, essv6843747, essv6925554, essv6933145
SamplesSSM008, SSM009, SSM084, SSM018, SSM031, SSM020, SSM015
Known GenesTUBGCP6
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)esv2724759
Frequency
Sample Size96
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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