A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2720097



Internal ID10303733
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:56511510..56590945hg38UCSC Ensembl
Outerchr2:56738645..56818080hg19UCSC Ensembl
Cytoband2p16.1
Allele length
AssemblyAllele length
hg3879436
hg1979436
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6748019, essv6955287, essv6773744, essv6859547, essv6942167, essv6853704, essv6764373, essv6756760, essv6742388, essv6910383, essv6736219, essv6751376, essv6972912, essv6750834, essv6816945, essv6962049, essv6919496, essv6889274, essv6879531, essv6667064
SamplesSSM059, SSM008, SSM027, SSM087, SSM097, SSM050, SSM088, SSM057, SSM023, SSM029, SSM026, SSM003, SSM066, SSM015, SSM078, SSM053, SSM056, SSM030, SSM063, SSM012
Known Genes
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)esv2720097
Frequency
Sample Size96
Observed Gain0
Observed Loss20
Observed Complex0
Frequencyn/a


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