A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2724290



Internal ID10307926
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:42896041..42896630hg38UCSC Ensembl
Outerchr22:43292047..43292636hg19UCSC Ensembl
Cytoband22q13.2
Allele length
AssemblyAllele length
hg38590
hg19590
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6874579, essv6742007, essv6703662, essv6846842, essv6852962, essv6725647, essv6729439, essv6895690, essv6747242, essv6682667, essv6710436, essv6678974, essv6674964, essv6921528, essv6928905, essv6666661, essv6954498
SamplesSSM045, SSM046, SSM039, SSM041, SSM029, SSM017, SSM019, SSM032, SSM031, SSM086, SSM033, SSM085, SSM007, SSM091, SSM025, SSM052, SSM098
Known GenesPACSIN2
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)esv2724290
Frequency
Sample Size96
Observed Gain0
Observed Loss17
Observed Complex0
Frequencyn/a


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