A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2725910



Internal ID10309546
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:130044496..130087899hg38UCSC Ensembl
Outerchr3:129763339..129806742hg19UCSC Ensembl
Cytoband3q22.1
Allele length
AssemblyAllele length
hg3843404
hg1943404
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6693458, essv6955217, essv6829566, essv6718726, essv6777520, essv6689815, essv6700314, essv6722596, essv6836751, essv6739363, essv6770146, essv6859950, essv6785672, essv6833149, essv6878105, essv6875178, essv6905929, essv6726442, essv6683355, essv6736448, essv6869173, essv6962550, essv6849387, essv6686656, essv6762211, essv6821770, essv6817329, essv6669982, essv6838375, essv6730204, essv6793947, essv6886436, essv6973549, essv6733890
SamplesSSM036, SSM083, SSM071, SSM027, SSM045, SSM046, SSM011, SSM079, SSM065, SSM039, SSM093, SSM050, SSM088, SSM002, SSM092, SSM090, SSM047, SSM069, SSM029, SSM096, SSM062, SSM035, SSM031, SSM067, SSM044, SSM001, SSM081, SSM082, SSM078, SSM037, SSM034, SSM004, SSM052, SSM049
Known GenesALG1L2
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)esv2725910
Frequency
Sample Size96
Observed Gain0
Observed Loss34
Observed Complex0
Frequencyn/a


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