A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2730248



Internal ID10313884
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:61997754..61998128hg38UCSC Ensembl
Outerchr5:61293581..61293955hg19UCSC Ensembl
Cytoband5q12.1
Allele length
AssemblyAllele length
hg38375
hg19375
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6704807, essv6829969, essv6841023, essv6884020, essv6869523, essv6723019, essv6837221, essv6907277, essv6683805, essv6844729, essv6848763, essv6865320, essv6886826, essv6860535, essv6794431, essv6770579, essv6676666, essv6854890, essv6899508, essv6826150, essv6805234, essv6878437, essv6811117, essv6708210, essv6889989, essv6726912, essv6693926, essv6781991, essv6777964, essv6853509, essv6881235, essv6926610, essv6833589, essv6817913, essv6798618, essv6711638, essv6814126, essv6974368, essv6680205, essv6865322, essv6774421, essv6886186, essv6930241, essv6947593, essv6697766, essv6745763, essv6676323, essv6670774, essv6903533
SamplesSSM100, SSM083, SSM071, SSM024, SSM045, SSM046, SSM011, SSM065, SSM087, SSM038, SSM097, SSM013, SSM093, SSM074, SSM042, SSM088, SSM041, SSM084, SSM090, SSM029, SSM096, SSM089, SSM019, SSM094, SSM032, SSM031, SSM067, SSM014, SSM086, SSM033, SSM066, SSM085, SSM068, SSM081, SSM040, SSM072, SSM082, SSM020, SSM078, SSM005, SSM080, SSM037, SSM077, SSM076, SSM055, SSM095, SSM034, 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)esv2730248
Frequency
Sample Size96
Observed Gain0
Observed Loss48
Observed Complex0
Frequencyn/a


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