A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2748867



Internal ID9983151
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:73530322..73572361hg38UCSC Ensembl
Outerchr14:73997026..74039065hg19UCSC Ensembl
Cytoband14q24.3
Allele length
AssemblyAllele length
hg3842040
hg1942040
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
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)esv2748867
Frequency
Sample Size96
Observed Gain0
Observed Loss40
Observed Complex0
Frequencyn/a


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