A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2727779



Internal ID9962091
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:69134998..69136270hg38UCSC Ensembl
Outerchr4:70000716..70001988hg19UCSC Ensembl
Cytoband4q13.2
Allele length
AssemblyAllele length
hg381273
hg191273
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6918259, essv6774204, essv6872360, essv6679968, essv6899287, essv6848333, essv6785915, essv6938508, essv6711405, essv6844542, essv6813906, essv6883820, essv6724932, essv6886612, essv6683555, essv6956806, essv6821989, essv6923907, essv6893060, essv6718929, essv6854478, essv6802219, essv6670311, essv6722806, essv6755954, essv6690008, essv6829739, essv6736595, essv6707988, essv6700509, essv6742747, essv6770339, essv6860206, essv6781744, essv6962890, essv6903284, essv6918484, essv6810922, essv6730424, essv6926409, essv6697583, essv6836985
SamplesSSM100, SSM036, SSM008, SSM083, SSM027, SSM045, SSM079, SSM065, SSM087, SSM038, SSM039, SSM013, SSM073, SSM050, SSM042, SSM088, SSM041, SSM047, SSM069, SSM096, SSM017, SSM019, SSM003, SSM031, SSM044, SSM001, SSM086, SSM033, SSM066, SSM085, SSM068, SSM081, SSM007, SSM053, SSM077, SSM076, SSM022, SSM091, SSM034, SSM004, SSM098, 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)esv2727779
Frequency
Sample Size96
Observed Gain0
Observed Loss42
Observed Complex0
Frequencyn/a


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