A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2716880



Internal ID10300516
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:26167743..26171342hg38UCSC Ensembl
Outerchr18:23747707..23751306hg19UCSC Ensembl
Cytoband18q11.2
Allele length
AssemblyAllele length
hg383600
hg193600
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6685704, essv6960604, essv6913406, essv6715698, essv6839408, essv6921055, essv6738430, essv6835629, essv6696404, essv6666012, essv6806955, essv6735670, essv6744299, essv6812775, essv6809963, essv6863293, essv6804058, essv6747379, essv6902020, essv6772871, essv6780246, essv6877261, essv6871294, essv6949923, essv6888614, essv6699260, essv6928597, essv6945850, essv6732941, essv6891896, essv6858388, essv6872498, essv6880045, essv6753112, essv6761513, essv6713700, essv6840120, essv6692410
SamplesSSM083, SSM024, SSM075, SSM011, SSM065, SSM087, SSM038, SSM097, SSM073, SSM093, SSM050, SSM074, SSM042, SSM088, SSM057, SSM023, SSM092, SSM090, SSM047, SSM061, SSM029, SSM096, SSM026, SSM017, SSM019, SSM067, SSM006, SSM082, SSM007, SSM015, SSM005, SSM037, SSM076, SSM010, SSM055, SSM034, SSM049, SSM012
Known GenesPSMA8
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)esv2716880
Frequency
Sample Size96
Observed Gain0
Observed Loss38
Observed Complex0
Frequencyn/a


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