A curated catalogue of human genomic structural variation

Variant Details

Variant: esv2730475

Internal ID9964791
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:94773884..94774252hg38UCSC Ensembl
Outerchr5:94109589..94109957hg19UCSC Ensembl
Allele length
AssemblyAllele length
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6969164, essv6938805, essv6951680, essv6826185, essv6794457, essv6963383, essv6937484, essv6926385, essv6726932, essv6890023, essv6711655, essv6833605, essv6726939, essv6872562, essv6914912, essv6841041, essv6759857, essv6899531, essv6782003, essv6767356, essv6860569, essv6676799, essv6814146, essv6878456, essv6907312, essv6680220, essv6802407, essv6723036, essv6869538, essv6886850, essv6690250, essv6670828, essv6697782, essv6719227, essv6837241, essv6748572, essv6811140, essv6798641, essv6808239, essv6875525, essv6854925, essv6824365, essv6822269, essv6956667, essv6865350, essv6676354, essv6881258, essv6817955, essv6893313
SamplesSSM010, SSM022, SSM007, SSM027, SSM092, SSM082, SSM036, SSM091, SSM033, SSM084, SSM061, SSM042, SSM078, SSM088, SSM089, SSM090, SSM064, SSM031, SSM025, SSM072, SSM071, SSM016, SSM001, SSM032, SSM045, SSM094, SSM083, SSM097, SSM077, SSM005, SSM093, SSM100, SSM056, SSM028, SSM003, SSM073, SSM087, SSM038, SSM046, SSM096, SSM079, SSM068, SSM044, SSM075, SSM026, SSM014, SSM098, SSM076, SSM080
Known GenesMCTP1
AnalysisBreakdancer:4 times standard deviation,VariationHunter:4 times standard deviation and at least 3 supportting reads
PlatformIllumina HiSeq 2000
Pubmed ID23290073
Accession Number(s)esv2730475
Sample Size96
Observed Gain0
Observed Loss49
Observed Complex0

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