A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2726518



Internal ID9960826
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:243619430..243620550hg38UCSC Ensembl
Outerchr1:243782732..243783852hg19UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg381121
hg191121
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6781081, essv6736141, essv6683006, essv6707440, essv6753678, essv6878509, essv6813339, essv6766701, essv6880579, essv6816839, essv6761974, essv6814376, essv6670910, essv6773641, essv6955071, essv6777127, essv6679378, essv6764319, essv6898779, essv6871879, essv6853540, essv6689444, essv6972712, essv6829185, essv6669279, essv6877823, essv6917639, essv6697142, essv6914149, essv6925867, essv6801783, essv6747949, essv6950766, essv6714442, essv6951951, essv6968154, essv6818276, essv6750767, essv6937871, essv6789381, essv6793518, essv6733634, essv6883405, essv6946685, essv6709709, essv6726047, essv6759219, essv6921939, essv6810494, essv6720398, essv6699823, essv6874871
SamplesSSM010, SSM022, SSM007, SSM092, SSM006, SSM036, SSM091, SSM033, SSM061, SSM078, SSM043, SSM064, SSM031, SSM025, SSM071, SSM016, SSM057, SSM001, SSM039, SSM024, SSM067, SSM094, SSM050, SSM041, SSM077, SSM062, SSM005, SSM012, SSM093, SSM100, SSM056, SSM017, SSM066, SSM028, SSM029, SSM095, SSM073, SSM002, SSM034, SSM063, SSM087, SSM046, SSM019, SSM068, SSM004, SSM026, SSM049, SSM018, SSM076, SSM058, SSM081, SSM070
Known GenesAKT3
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)esv2726518
Frequency
Sample Size96
Observed Gain0
Observed Loss52
Observed Complex0
Frequencyn/a


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