A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2730376



Internal ID10314012
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:80693183..80693452hg38UCSC Ensembl
Outerchr5:79989002..79989271hg19UCSC Ensembl
Cytoband5q14.1
Allele length
AssemblyAllele length
hg38270
hg19270
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv945e201
Supporting Variantsessv6951674, essv6870264, essv6786182, essv6704817, essv6711645, essv6680215, essv6848781, essv6676340, essv6918539, essv6907299, essv6767350, essv6708223, essv6822255, essv6811127, essv6886286, essv6670802, essv6911109, essv6726927, essv6853675, essv6683823, essv6903544, essv6969150, essv6974398, essv6802401, essv6748565, essv6687073, essv6798630, essv6690241, essv6723027, essv6676744, essv6814137, essv6930249, essv6730681, essv6947609, essv6884032, essv6934480, essv6794447, essv6739784, essv6938793, essv6926616, essv6893298, essv6881246, essv6781998, essv6667430, essv6943132, essv6956650, essv6793155, essv6719216, essv6860550, essv6817935
SamplesSSM036, SSM071, SSM024, SSM045, SSM046, SSM011, SSM064, SSM079, SSM013, SSM009, SSM073, SSM042, SSM088, SSM002, SSM041, SSM023, SSM028, SSM021, SSM047, SSM069, SSM029, SSM026, SSM017, SSM019, SSM035, SSM094, SSM032, SSM031, SSM044, SSM014, SSM086, SSM033, SSM068, SSM040, SSM072, SSM020, SSM015, SSM078, SSM005, SSM077, SSM076, SSM022, SSM095, SSM025, SSM034, SSM052, SSM098, SSM056, SSM030, SSM012
Known GenesMSH3
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)esv2730376
Frequency
Sample Size96
Observed Gain0
Observed Loss50
Observed Complex0
Frequencyn/a


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