A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2718644



Internal ID9952936
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:46078100..46079459hg38UCSC Ensembl
Outerchr19:46581358..46582717hg19UCSC Ensembl
Cytoband19q13.32
Allele length
AssemblyAllele length
hg381360
hg191360
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6761687, essv6769295, essv6766370, essv6841954, essv6914918, essv6863641, essv6717320, essv6937359, essv6967517, essv6814687, essv6868445, essv6666499, essv6735837, essv6747590, essv6961038, essv6741924, essv6832314, essv6746388, essv6744746, essv6852835, essv6756359, essv6725536, essv6758890, essv6750412, essv6784154, essv6773161, essv6682585, essv6738646, essv6781854, essv6858802, essv6764033, essv6846756, essv6820916, essv6877463, essv6909812, essv6753327
SamplesSSM059, SSM008, SSM027, SSM045, SSM064, SSM065, SSM087, SSM009, SSM050, SSM088, SSM002, SSM057, SSM058, SSM092, SSM021, SSM061, SSM029, SSM062, SSM026, SSM089, SSM001, SSM014, SSM086, SSM033, SSM006, SSM085, SSM081, SSM007, SSM078, SSM053, SSM010, SSM055, SSM052, SSM049, 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)esv2718644
Frequency
Sample Size96
Observed Gain0
Observed Loss36
Observed Complex0
Frequencyn/a


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