A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2720081



Internal ID9954377
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:54466335..54466619hg38UCSC Ensembl
Outerchr2:54693472..54693756hg19UCSC Ensembl
Cytoband2p16.2
Allele length
AssemblyAllele length
hg38285
hg19285
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6955283, essv6962047, essv6879520, essv6972908, essv6859544, essv6675509, essv6816942, essv6864337, essv6699956, essv6889271, essv6906410, essv6846532, essv6847511, essv6683090, essv6810559, essv6671599, essv6853702
SamplesSSM027, SSM086, SSM078, SSM088, SSM089, SSM032, SSM039, SSM097, SSM005, SSM012, SSM011, SSM029, SSM034, SSM087, SSM026, SSM014, SSM076
Known GenesSPTBN1
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)esv2720081
Frequency
Sample Size96
Observed Gain0
Observed Loss17
Observed Complex0
Frequencyn/a


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