A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2747586



Internal ID10328556
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:43391725..43392109hg38UCSC Ensembl
Outerchr1:43857396..43857780hg19UCSC Ensembl
Cytoband1p34.2
Allele length
AssemblyAllele length
hg38385
hg19385
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6844031, essv6789186, essv6816614, essv6892344, essv6729651, essv6825005, essv6813192, essv6863987, essv6859221, essv6804417, essv6780908, essv6910079, essv6725872, essv6906116, essv6793319, essv6821205, essv6929099, essv6883272, essv6954788, essv6921753, essv6898627, essv6797478, essv6801636, essv6686170, essv6847059, essv6917471, essv6836214, essv6853275, essv6961601, essv6972402, essv6880437, essv6902569, essv6776963, essv6718185
SamplesSSM100, SSM083, SSM071, SSM027, SSM046, SSM011, SSM079, SSM087, SSM013, SSM073, SSM074, SSM088, SSM047, SSM018, SSM029, SSM026, SSM089, SSM017, SSM035, SSM094, SSM067, SSM044, SSM014, SSM086, SSM068, SSM072, SSM020, SSM015, SSM078, SSM080, SSM077, SSM070, SSM095, SSM098
Known GenesSZT2
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)esv2747586
Frequency
Sample Size96
Observed Gain0
Observed Loss34
Observed Complex0
Frequencyn/a


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