A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2730261



Internal ID10313897
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:63277529..63614964hg38UCSC Ensembl
Outerchr5:62573356..62910791hg19UCSC Ensembl
Cytoband5q12.1
Allele length
AssemblyAllele length
hg38337436
hg19337436
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6907278, essv6947594, essv6781992, essv6889991, essv6683806, essv6899509, essv6848766, essv6786170, essv6963346, essv6687058, essv6719202, essv6774422, essv6854893, essv6811119, essv6899511, essv6878438, essv6826152, essv6930244, essv6860538, essv6848767, essv6790296, essv6947597, essv6865323, essv6848768, essv6817915, essv6811118, essv6853531, essv6963347, essv6956633, essv6974371, essv6926240, essv6802395, essv6844733, essv6794433, essv6708212, essv6869709, essv6963348, essv6853542, essv6943114, essv6893286, essv6693927, essv6860537, essv6726914, essv6687059, essv6817916, essv6808224, essv6837223, essv6854892, essv6676325, essv6974370, essv6930243, essv6680207, essv6886197, essv6719201, essv6715309, essv6886828, essv6700801, essv6956634, essv6884022, essv6726913, essv6922848, essv6893285, essv6886829, essv6869524, essv6860536, essv6881237, essv6734209, essv6875514, essv6865324, essv6829970, essv6884021, essv6889992, essv6837222, essv6826155, essv6676324, essv6708211, essv6896594, essv6936706, essv6704808, essv6794434, essv6969142, essv6805235, essv6715311, essv6670778, essv6670777, essv6881236, essv6777965, essv6907279
SamplesSSM100, SSM083, SSM071, SSM027, SSM024, SSM075, SSM046, SSM011, SSM087, SSM097, SSM039, SSM073, SSM093, SSM074, SSM088, SSM002, SSM041, SSM023, SSM028, SSM092, SSM090, SSM018, SSM069, SSM029, SSM096, SSM026, SSM089, SSM035, SSM094, SSM032, SSM003, SSM031, SSM067, SSM044, SSM001, SSM014, SSM086, SSM033, SSM066, SSM085, SSM068, SSM081, SSM040, SSM020, SSM078, SSM080, SSM037, SSM076, SSM070, SSM095, SSM034, SSM099, SSM043, SSM098, SSM049, 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)esv2730261
Frequency
Sample Size96
Observed Gain0
Observed Loss56
Observed Complex0
Frequencyn/a


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