A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2724927



Internal ID9959229
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:11914262..12871926hg38UCSC Ensembl
Outerchr3:11955736..12913425hg19UCSC Ensembl
Cytoband3p25.2
Allele length
AssemblyAllele length
hg38957665
hg19957690
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv763e201
Supporting Variantsessv6951096, essv6910581, essv6829480, essv6864613, essv6962400, essv6804816, essv6942404, essv6739284, essv6903009, essv6864612, essv6770060, essv6973343, essv6825548, essv6878030, essv6753320, essv6886355, essv6693357, essv6745316, essv6836670, essv6892777, essv6892775, essv6817192, essv6914419, essv6788877, essv6906654, essv6785566, essv6973344, essv6718645, essv6848398, essv6711091, essv6847849, essv6672943, essv6675707, essv6801996, essv6766913, essv6896203, essv6859818, essv6968513, essv6672932, essv6955646, essv6789699, essv6683269, essv6736381, essv6872113, essv6903008, essv6922283, essv6840482, essv6726355, essv6801997, essv6955645, essv6675708, essv6759434, essv6929641, essv6766914, essv6973342, essv6813613, essv6793839, essv6770061, essv6759433, essv6880794, essv6869103, essv6938193, essv6962399, essv6672920
SamplesSSM008, SSM083, SSM071, SSM027, SSM046, SSM011, SSM064, SSM065, SSM013, SSM009, SSM073, SSM093, SSM050, SSM074, SSM042, SSM088, SSM023, SSM028, SSM084, SSM090, SSM018, SSM069, SSM061, SSM029, SSM096, SSM026, SSM089, SSM094, SSM032, SSM044, SSM014, SSM086, SSM081, SSM020, SSM015, SSM078, SSM016, SSM005, SSM080, SSM037, SSM077, SSM022, SSM091, SSM055, SSM070, SSM025, SSM034, SSM099, SSM052, SSM098
Known GenesC3orf83, CAND2, MKRN2, PPARG, RAF1, RPL32, SNORA7A, SYN2, TIMP4, TMEM40, TSEN2
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)esv2724927
Frequency
Sample Size96
Observed Gain0
Observed Loss50
Observed Complex0
Frequencyn/a


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