A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2725838



Internal ID10309474
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:123478377..123479340hg38UCSC Ensembl
Outerchr3:123197224..123198187hg19UCSC Ensembl
Cytoband3q21.1
Allele length
AssemblyAllele length
hg38964
hg19964
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6802064, essv6693451, essv6938291, essv6910659, essv6880877, essv6714842, essv6955821, essv6754199, essv6883701, essv6704369, essv6730197, essv6679762, essv6762203, essv6742592, essv6753974, essv6844386, essv6821132, essv6926204, essv6929726, essv6751059, essv6777518, essv6872186, essv6759504, essv6951201, essv6849309, essv6785667, essv6756940, essv6699421, essv6922389, essv6748221, essv6914488, essv6968611, essv6689806, essv6798104, essv6770140, essv6973533, essv6833142, essv6878100, essv6789784, essv6875173, essv6829559, essv6781512, essv6947117, essv6766977, essv6774009, essv6813699, essv6669965, essv6864732, essv6918065, essv6840561, essv6921929, essv6722589, essv6736439, essv6723354, essv6739355, essv6886425, essv6854180, essv6882087, essv6837709, essv6848024, essv6673488, essv6711187, essv6817322, essv6903087, essv6764561, essv6733880, essv6896271, essv6789565, essv6962538, essv6905373
SamplesSSM059, SSM036, SSM008, SSM027, SSM024, SSM045, SSM011, SSM064, SSM065, SSM087, SSM013, SSM009, SSM073, SSM093, SSM050, SSM042, SSM002, SSM057, SSM058, SSM028, SSM092, SSM084, SSM047, SSM018, SSM069, SSM061, SSM029, SSM096, SSM062, SSM026, SSM089, SSM017, SSM019, SSM094, SSM003, SSM031, SSM067, SSM001, SSM086, SSM033, SSM066, SSM006, SSM085, SSM068, SSM081, SSM040, SSM072, SSM082, SSM020, SSM007, SSM015, SSM078, SSM016, SSM053, SSM005, SSM037, SSM077, SSM022, SSM010, SSM091, SSM070, SSM095, SSM025, SSM099, SSM043, SSM052, SSM049, SSM056, SSM063, 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)esv2725838
Frequency
Sample Size96
Observed Gain0
Observed Loss70
Observed Complex0
Frequencyn/a


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