A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2718641



Internal ID10302277
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:45775257..45776375hg38UCSC Ensembl
Outerchr19:46278515..46279633hg19UCSC Ensembl
Cytoband19q13.32
Allele length
AssemblyAllele length
hg381119
hg191119
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6880246, essv6816343, essv6921398, essv6946165, essv6756358, essv6967516, essv6666498, essv6753326, essv6707056, essv6735836, essv6905865, essv6746377, essv6744745, essv6766369, essv6917161, essv6877462, essv6913710, essv6738645, essv6764032, essv6780526, essv6804231, essv6776694, essv6784680, essv6741923, essv6682584, essv6717309, essv6937358, essv6954390, essv6807170, essv6713966, essv6858801, essv6747589, essv6685935, essv6946166, essv6832313, essv6971965, essv6733201, essv6898405, essv6814676, essv6820915, essv6947930, essv6758889, essv6925388, essv6852833, essv6835892, essv6902271, essv6839683, essv6843567, essv6792960, essv6707055, essv6914907, essv6692482, essv6717874
SamplesSSM059, SSM036, SSM083, SSM027, SSM087, SSM013, SSM009, SSM073, SSM093, SSM050, SSM074, SSM042, SSM002, SSM057, SSM023, SSM058, SSM028, SSM092, SSM084, SSM021, SSM047, SSM018, SSM029, SSM062, SSM017, SSM003, SSM067, SSM086, SSM033, SSM066, SSM006, SSM068, SSM081, SSM040, SSM082, SSM007, SSM015, SSM078, SSM016, SSM053, SSM077, SSM055, SSM070, SSM025, SSM034, SSM099, SSM043, SSM052, SSM049, SSM063, SSM012
Known GenesDMPK
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)esv2718641
Frequency
Sample Size96
Observed Gain0
Observed Loss51
Observed Complex0
Frequencyn/a


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