A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2719056



Internal ID10302692
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:57017110..57018163hg38UCSC Ensembl
Outerchr19:57528478..57529531hg19UCSC Ensembl
Cytoband19q13.43
Allele length
AssemblyAllele length
hg381054
hg191054
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6921463, essv6967582, essv6880278, essv6972012, essv6948307, essv6813007, essv6832357, essv6852888, essv6842331, essv6666583, essv6797200, essv6835947, essv6863702, essv6758914, essv6750452, essv6885816, essv6816385, essv6937412, essv6703613, essv6820959, essv6714008, essv6877506, essv6915218, essv6787264, essv6928863, essv6766403, essv6863703, essv6738679, essv6967581
SamplesSSM059, SSM071, SSM027, SSM039, SSM093, SSM050, SSM042, SSM088, SSM002, SSM028, SSM092, SSM021, SSM029, SSM017, SSM019, SSM003, SSM001, SSM086, SSM081, SSM082, SSM078, SSM077, SSM076, SSM010, SSM095, SSM056, SSM063
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)esv2719056
Frequency
Sample Size96
Observed Gain0
Observed Loss27
Observed Complex0
Frequencyn/a


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