A curated catalogue of human genomic structural variation

Variant Details

Variant: esv2748867

Internal ID9983151
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:73530322..73572361hg38UCSC Ensembl
Outerchr14:73997026..74039065hg19UCSC Ensembl
Allele length
AssemblyAllele length
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6842732, essv6901601, essv6870938, essv6717091, essv6717092, essv6905176, essv6678108, essv6920508, essv6706468, essv6796319, essv6973496, essv6709745, essv6698963, essv6838893, essv6941385, essv6862739, essv6739375, essv6755803, essv6959779, essv6831600, essv6689199, essv6713252, essv6953539, essv6835151, essv6876892, essv6739264, essv6971149, essv6779740, essv6912895, essv6783859, essv6928170, essv6774808, essv6945276, essv6920509, essv6803696, essv6702752, essv6772359, essv6691850, essv6873894, essv6846178, essv6876893, essv6924631, essv6740487, essv6857673
SamplesSSM065, SSM007, SSM092, SSM013, SSM082, SSM036, SSM091, SSM084, SSM042, SSM040, SSM043, SSM088, SSM090, SSM025, SSM071, SSM001, SSM032, SSM039, SSM067, SSM083, SSM041, SSM005, SSM012, SSM085, SSM017, SSM028, SSM003, SSM073, SSM087, SSM038, SSM019, SSM023, SSM068, SSM004, SSM015, SSM026, SSM008, SSM018, SSM058, SSM081
Known GenesACOT1, ACOT2, HEATR4
AnalysisBreakdancer:4 times standard deviation,VariationHunter:4 times standard deviation and at least 3 supportting reads
PlatformIllumina HiSeq 2000
Pubmed ID23290073
Accession Number(s)esv2748867
Sample Size96
Observed Gain0
Observed Loss40
Observed Complex0

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