A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2725944



Internal ID9960250
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:133967408..133968463hg38UCSC Ensembl
Outerchr3:133686252..133687307hg19UCSC Ensembl
Cytoband3q22.1
Allele length
AssemblyAllele length
hg381056
hg191056
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6748230, essv6922051, essv6947127, essv6848050, essv6955839, essv6693464, essv6700319, essv6926216, essv6730208, essv6840571, essv6817336, essv6844398, essv6859958, essv6679771, essv6951211, essv6838820, essv6770149, essv6669987, essv6722602, essv6673587, essv6896277, essv6821221
SamplesSSM010, SSM065, SSM086, SSM033, SSM084, SSM099, SSM078, SSM088, SSM031, SSM025, SSM039, SSM024, SSM045, SSM005, SSM056, SSM085, SSM003, SSM047, SSM002, SSM037, SSM019, SSM026
Known GenesSLCO2A1
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)esv2725944
Frequency
Sample Size96
Observed Gain0
Observed Loss22
Observed Complex0
Frequencyn/a


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