A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2721036



Internal ID10304672
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:160089533..160090147hg38UCSC Ensembl
Outerchr2:160946044..160946658hg19UCSC Ensembl
Cytoband2q24.2
Allele length
AssemblyAllele length
hg38615
hg19615
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6962213, essv6847673, essv6769937, essv6853861, essv6748096, essv6880722, essv6906532, essv6955452, essv6962212, essv6910471, essv6817064, essv6721920, essv6819631, essv6859674
SamplesSSM027, SSM065, SSM087, SSM088, SSM026, SSM094, SSM014, SSM086, SSM007, SSM015, SSM078, SSM010, SSM056
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)esv2721036
Frequency
Sample Size96
Observed Gain0
Observed Loss13
Observed Complex0
Frequencyn/a


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