A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2724895



Internal ID9959197
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:10064005..11886857hg38UCSC Ensembl
Outerchr3:10105689..11928331hg19UCSC Ensembl
Cytoband3p25.2
Allele length
AssemblyAllele length
hg381822853
hg191822643
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv762e201
Supporting Variantsessv6962394, essv6781427, essv6896202, essv6829477, essv6833056, essv6789695, essv6813612, essv6711089, essv6892771, essv6821675, essv6745312, essv6707706, essv6951094, essv6938192, essv6886353, essv6788855, essv6954417, essv6714748, essv6730101, essv6847845, essv6854028, essv6804815, essv6798008, essv6777451, essv6859814, essv6813608, essv6840481, essv6700184, essv6748161, essv6906652, essv6726350, essv6679670, essv6785564, essv6817191, essv6954428, essv6722490, essv6938191, essv6954406, essv6667150, essv6921173, essv6906653, essv6880792, essv6817190, essv6955642, essv6726348, essv6899022, essv6730104, essv6833058, essv6921162, essv6926121, essv6836668, essv6739283, essv6899023, essv6903006, essv6848387, essv6785563, essv6753907, essv6892772, essv6807783, essv6962393, essv6770058, essv6955641, essv6947021, essv6864610, essv6718642, essv6955644, essv6718641, essv6875101, essv6711086, essv6813609, essv6859815, essv6859810, essv6793837, essv6781428, essv6942401, essv6847847, essv6825544, essv6968512, essv6914415, essv6810695, essv6933857, essv6962391, essv6881287, essv6745313, essv6777450, essv6859808, essv6859813, essv6733818, essv6689725, essv6864607, essv6793835, essv6753287, essv6714749, essv6926123, essv6700183, essv6753298, essv6880790, essv6889463, essv6726349, essv6847844, essv6864606, essv6726352, essv6798005, essv6693355, essv6910579, essv6877486, essv6707707, essv6789696, essv6942400, essv6820376, essv6693356, essv6667149, essv6770059, essv6697358, essv6973335, essv6745315, essv6726354, essv6962392, essv6686567, essv6825545, essv6711087, essv6869101, essv6917966, essv6880791, essv6798006, essv6968510, essv6929638, essv6829479, essv6955643, essv6820364, essv6889462, essv6689726, essv6889464, essv6878028, essv6793836, essv6922282, essv6722492, essv6829478, essv6813611, essv6722489, essv6753909, essv6742533, essv6886351, essv6878029, essv6669807, essv6922280, essv6722491, essv6711090, essv6745314, essv6736380, essv6968509, essv6942402, essv6922281, essv6973338, essv6973337, essv6968511, essv6864608, essv6730102, essv6926122, essv6773927, essv6683268, essv6875100, essv6910580, essv6669804, essv6951093, essv6693353, essv6675706, essv6906650, essv6859812, essv6793834, essv6973336, essv6951092, essv6801994, essv6798007, essv6714747, essv6698888, essv6753309, essv6933856, essv6921184, essv6844313, essv6804814, essv6847846, essv6739282, essv6730103, essv6947020, essv6880793, essv6669805, essv6854031, essv6942399, essv6683267, essv6781429, essv6962397, essv6669806, essv6859811, essv6773926, essv6801995, essv6669803, essv6854029, essv6833057
SamplesSSM100, SSM036, SSM008, SSM083, SSM071, SSM027, SSM024, SSM075, SSM045, SSM046, SSM011, SSM079, SSM065, SSM087, SSM038, SSM097, SSM039, SSM013, SSM009, SSM073, SSM093, SSM050, SSM074, SSM042, SSM088, SSM041, SSM023, SSM058, SSM028, SSM092, SSM084, SSM090, SSM021, SSM047, SSM018, SSM069, SSM029, SSM096, SSM026, SSM089, SSM017, SSM019, SSM035, SSM094, SSM032, SSM003, SSM031, SSM067, SSM044, SSM001, SSM014, SSM086, SSM033, SSM066, SSM006, SSM085, SSM068, SSM081, SSM072, SSM082, SSM020, SSM015, SSM078, SSM016, SSM053, SSM080, SSM037, SSM077, SSM076, SSM022, SSM010, SSM055, SSM070, SSM025, SSM034, SSM004, SSM099, SSM043, SSM052, SSM098, SSM049, SSM056, SSM030, SSM012
Known GenesATG7, ATP2B2, BRK1, FANCD2, FANCD2OS, GHRL, GHRLOS, HRH1, IRAK2, LINC00606, LINC00852, MIR885, SEC13, SLC6A1, SLC6A11, SLC6A1-AS1, TAMM41, TATDN2, VGLL4, VHL
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)esv2724895
Frequency
Sample Size96
Observed Gain0
Observed Loss84
Observed Complex0
Frequencyn/a


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