A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2730475



Internal ID9964791
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:94773884..94774252hg38UCSC Ensembl
Outerchr5:94109589..94109957hg19UCSC Ensembl
Cytoband5q15
Allele length
AssemblyAllele length
hg38369
hg19369
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6869538, essv6826185, essv6726932, essv6767356, essv6676799, essv6886850, essv6837241, essv6893313, essv6670828, essv6822269, essv6798641, essv6938805, essv6890023, essv6690250, essv6711655, essv6759857, essv6748572, essv6914912, essv6723036, essv6680220, essv6956667, essv6875525, essv6872562, essv6899531, essv6802407, essv6951680, essv6907312, essv6676354, essv6937484, essv6808239, essv6881258, essv6697782, essv6926385, essv6814146, essv6841041, essv6811140, essv6963383, essv6817955, essv6782003, essv6860569, essv6719227, essv6794457, essv6854925, essv6726939, essv6865350, essv6878456, essv6833605, essv6969164, essv6824365
SamplesSSM100, SSM036, SSM083, SSM071, SSM027, SSM075, SSM045, SSM046, SSM064, SSM079, SSM087, SSM038, SSM097, SSM073, SSM093, SSM042, SSM088, SSM028, SSM092, SSM084, SSM090, SSM061, SSM096, SSM026, SSM089, SSM094, SSM032, SSM003, SSM031, SSM044, SSM001, SSM014, SSM033, SSM068, SSM072, SSM082, SSM007, SSM078, SSM016, SSM005, SSM080, SSM077, SSM076, SSM022, SSM010, SSM091, SSM025, SSM098, SSM056
Known GenesMCTP1
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)esv2730475
Frequency
Sample Size96
Observed Gain0
Observed Loss49
Observed Complex0
Frequencyn/a


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