A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2718459



Internal ID9952750
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:32538876..32539925hg38UCSC Ensembl
Outerchr19:33029782..33030831hg19UCSC Ensembl
Cytoband19q13.11
Allele length
AssemblyAllele length
hg381050
hg191050
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6954367, essv6725507, essv6773138, essv6946137, essv6905842, essv6902248, essv6950193, essv6971943, essv6666833, essv6668730, essv6666459, essv6780506, essv6776681, essv6801322, essv6682560, essv6797126, essv6947773, essv6696703, essv6874442, essv6717842, essv6792933, essv6925361, essv6703550, essv6721690, essv6807151, essv6738630, essv6941439, essv6824663, essv6921358, essv6839660, essv6713951, essv6828728, essv6678879, essv6814443
SamplesSSM083, SSM071, SSM024, SSM045, SSM011, SSM079, SSM065, SSM039, SSM013, SSM009, SSM050, SSM074, SSM042, SSM023, SSM028, SSM018, SSM029, SSM017, SSM032, SSM003, SSM067, SSM044, SSM033, SSM066, SSM072, SSM080, SSM037, SSM022, SSM070, SSM025, SSM004, SSM043, 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)esv2718459
Frequency
Sample Size96
Observed Gain0
Observed Loss34
Observed Complex0
Frequencyn/a


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