A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2721613



Internal ID10305249
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:231425742..231426564hg38UCSC Ensembl
Outerchr2:232290453..232291275hg19UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg38823
hg19823
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6793777, essv6789641, essv6821634, essv6933795, essv6833016, essv6807753, essv6722440, essv6847772, essv6968456, essv6785505, essv6804777, essv6711031, essv6922233, essv6938144, essv6679626, essv6730058, essv6955554, essv6693297, essv6797956, essv6669737, essv6859762, essv6752731, essv6683239, essv6844267, essv6829430, essv6878001, essv6840429, essv6920795, essv6872078, essv6946971, essv6781378, essv6675666, essv6962316, essv6951032, essv6722354, essv6769997, essv6917913, essv6973234, essv6700129, essv6766875, essv6942342, essv6704251, essv6773877, essv6697327, essv6910525, essv6788443, essv6875072, essv6902962, essv6880808, essv6820054
SamplesSSM008, SSM071, SSM027, SSM024, SSM075, SSM045, SSM064, SSM079, SSM065, SSM038, SSM039, SSM013, SSM009, SSM093, SSM074, SSM042, SSM088, SSM023, SSM028, SSM092, SSM084, SSM021, SSM047, SSM018, SSM069, SSM029, SSM026, SSM017, SSM032, SSM003, SSM031, SSM086, SSM033, SSM066, SSM085, SSM068, SSM081, SSM040, SSM072, SSM082, SSM007, SSM015, SSM037, SSM022, SSM010, SSM091, SSM070, SSM025, SSM034, 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)esv2721613
Frequency
Sample Size96
Observed Gain0
Observed Loss50
Observed Complex0
Frequencyn/a


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