A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2722384



Internal ID10306020
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:211398703..211401127hg38UCSC Ensembl
Outerchr1:211572045..211574469hg19UCSC Ensembl
Cytoband1q32.3
Allele length
AssemblyAllele length
hg382425
hg192425
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6722151, essv6925842, essv6793466, essv6781042, essv6878198, essv6859380, essv6844021, essv6812043, essv6937835, essv6902694, essv6785155, essv6871847, essv6917600, essv6921905, essv6868849, essv6941972, essv6789319, essv6847281, essv6929234, essv6669216
SamplesSSM071, SSM045, SSM013, SSM088, SSM002, SSM023, SSM090, SSM018, SSM069, SSM017, SSM019, SSM031, SSM086, SSM085, SSM068, SSM020, SSM022, SSM091, SSM070, SSM012
Known GenesLINC00467
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)esv2722384
Frequency
Sample Size96
Observed Gain0
Observed Loss20
Observed Complex0
Frequencyn/a


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