A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2730459



Internal ID10314095
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:92184943..92185328hg38UCSC Ensembl
Outerchr5:91480760..91481145hg19UCSC Ensembl
Cytoband5q14.3
Allele length
AssemblyAllele length
hg38386
hg19386
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6786189, essv6854924, essv6896611, essv6811139, essv6670826, essv6878455, essv6777985, essv6770593, essv6853764, essv6865348, essv6704825, essv6687082, essv6817952, essv6814144, essv6907310, essv6848800, essv6833604, essv6890022, essv6974419, essv6837239, essv6700832, essv6829984, essv6683833, essv6947614, essv6726936, essv6884044, essv6767355, essv6798639, essv6930258, essv6881256, essv6790313, essv6869537, essv6822267, essv6956664, essv6676788, essv6893311, essv6697781, essv6963382, essv6886848, essv6782001, essv6676352, essv6872561, essv6969161, essv6723035, essv6860567, essv6719224, essv6708233, essv6794456
SamplesSSM083, SSM071, SSM027, SSM024, SSM045, SSM046, SSM011, SSM064, SSM079, SSM065, SSM087, SSM038, SSM097, SSM039, SSM093, SSM088, SSM041, SSM028, SSM090, SSM069, SSM029, SSM096, SSM026, SSM089, SSM035, SSM094, SSM032, SSM031, SSM067, SSM044, SSM014, SSM086, SSM068, SSM081, SSM040, SSM072, SSM082, SSM020, SSM078, SSM005, SSM077, SSM076, SSM091, SSM070, SSM095, SSM034, SSM099, SSM098
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)esv2730459
Frequency
Sample Size96
Observed Gain0
Observed Loss48
Observed Complex0
Frequencyn/a


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