A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2718313



Internal ID9952604
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:20436561..20436866hg38UCSC Ensembl
Outerchr19:20619367..20619672hg19UCSC Ensembl
Cytoband19p12
Allele length
AssemblyAllele length
hg38306
hg19306
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6745909, essv6666533, essv6971920, essv6668717, essv6733159, essv6750369, essv6753283, essv6947507, essv6814166, essv6960977, essv6769251, essv6928776, essv6832274, essv6921324, essv6747558, essv6954337, essv6773116, essv6902224, essv6905820, essv6741878, essv6877433, essv6781266, essv6758862, essv6776663, essv6913658, essv6858740, essv6843514, essv6937309, essv6780932, essv6967463, essv6874425, essv6917106, essv6682531, essv6693909
SamplesSSM059, SSM008, SSM027, SSM064, SSM065, SSM087, SSM013, SSM009, SSM057, SSM028, SSM092, SSM084, SSM021, SSM047, SSM026, SSM017, SSM019, SSM003, SSM001, SSM033, SSM066, SSM081, SSM007, SSM015, SSM016, SSM005, SSM091, SSM055, SSM025, SSM004, SSM052, SSM056, SSM030, SSM012
Known Genes
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)esv2718313
Frequency
Sample Size96
Observed Gain0
Observed Loss34
Observed Complex0
Frequencyn/a


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