A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2720857



Internal ID10304493
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:134503115..134504631hg38UCSC Ensembl
Outerchr2:135260686..135262202hg19UCSC Ensembl
Cytoband2q21.3
Allele length
AssemblyAllele length
hg381517
hg191517
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6762078, essv6753815, essv6902902, essv6721809, essv6877951, essv6672143, essv6955424, essv6910460, essv6748082, essv6804720, essv6942247, essv6736279, essv6697277, essv6752109, essv6777329, essv6773818, essv6864440, essv6968382, essv6710970, essv6821566, essv6686478, essv6886270, essv6785419, essv6824820, essv6920174, essv6679559, essv6840371, essv6825404, essv6693214, essv6787899, essv6745229, essv6726237, essv6906509, essv6742447, essv6797878, essv6722378, essv6880705, essv6817037, essv6836570, essv6801912, essv6781301, essv6938084, essv6698187, essv6766826, essv6707616, essv6869019, essv6847342
SamplesSSM008, SSM083, SSM045, SSM046, SSM011, SSM064, SSM079, SSM038, SSM013, SSM009, SSM073, SSM093, SSM050, SSM074, SSM042, SSM002, SSM041, SSM023, SSM058, SSM028, SSM084, SSM090, SSM069, SSM096, SSM062, SSM026, SSM089, SSM035, SSM094, SSM003, SSM067, SSM014, SSM033, SSM066, SSM006, SSM068, SSM072, SSM007, SSM015, SSM078, SSM053, SSM005, SSM080, SSM037, SSM022, SSM055, SSM056
Known GenesTMEM163
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)esv2720857
Frequency
Sample Size96
Observed Gain0
Observed Loss47
Observed Complex0
Frequencyn/a


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