A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2731487



Internal ID10315123
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:3145141..3146590hg38UCSC Ensembl
Outerchr6:3145375..3146824hg19UCSC Ensembl
Cytoband6p25.2
Allele length
AssemblyAllele length
hg381450
hg191450
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6890115, essv6860694, essv6778082, essv6687161, essv6951775, essv6670980, essv6730782, essv6700946, essv6730781, essv6790404, essv6774525, essv6974620, essv6860695, essv6943256, essv6802491, essv6708322, essv6943257, essv6694058, essv6855086, essv6811209, essv6818085, essv6794549, essv6899596, essv6798732, essv6700945, essv6680301, essv6782082, essv6830085, essv6822362, essv6934609, essv6927251, essv6907430, essv6887275, essv6715403, essv6790403, essv6822361, essv6680302, essv6930352, essv6702932, essv6911225, essv6893401, essv6711741, essv6719310, essv6837325, essv6848969, essv6956846, essv6927263, essv6719311, essv6798734, essv6676447, essv6786284, essv6848970, essv6865464, essv6814227, essv6878533, essv6947703, essv6926692, essv6841148, essv6830086, essv6914988, essv6878534, essv6762546, essv6869600, essv6956847, essv6833678, essv6723133, essv6886933, essv6794550, essv6727032, essv6969257, essv6826282, essv6893400, essv6670979, essv6930350, essv6896691, essv6886932, essv6690330, essv6676446, essv6778083, essv6683914, essv6708323, essv6947702, essv6963570, essv6896690
SamplesSSM100, SSM036, SSM083, SSM071, SSM027, SSM024, SSM045, SSM046, SSM079, SSM087, SSM097, SSM039, SSM073, SSM093, SSM042, SSM088, SSM041, SSM023, SSM028, SSM084, SSM090, SSM021, SSM047, SSM069, SSM029, SSM096, SSM062, SSM026, SSM089, SSM019, SSM035, SSM032, SSM003, SSM031, SSM067, SSM044, SSM014, SSM086, SSM033, SSM066, SSM006, SSM068, SSM081, SSM072, SSM082, SSM020, SSM015, SSM078, SSM016, SSM080, SSM037, SSM077, SSM076, SSM070, SSM025, SSM034, SSM099, SSM043, SSM098, SSM012
Known GenesBPHL
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)esv2731487
Frequency
Sample Size96
Observed Gain0
Observed Loss60
Observed Complex0
Frequencyn/a


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