A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2718675



Internal ID9952967
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:48365093..48365709hg38UCSC Ensembl
Outerchr19:48868350..48868966hg19UCSC Ensembl
Cytoband19q13.33
Allele length
AssemblyAllele length
hg38617
hg19617
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6721711, essv6971968, essv6950217, essv6937365, essv6824685, essv6858807, essv6852841, essv6788850, essv6756361, essv6801342, essv6814743, essv6792966, essv6692486, essv6717879, essv6839687, essv6902276, essv6666503, essv6729350, essv6925393, essv6733205, essv6780533, essv6961044, essv6781898, essv6678887, essv6874609, essv6967523
SamplesSSM036, SSM008, SSM083, SSM027, SSM024, SSM046, SSM011, SSM079, SSM087, SSM009, SSM058, SSM028, SSM021, SSM047, SSM018, SSM069, SSM029, SSM026, SSM032, SSM067, SSM044, SSM086, SSM072, SSM070, SSM043, SSM012
Known GenesSYNGR4
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)esv2718675
Frequency
Sample Size96
Observed Gain0
Observed Loss26
Observed Complex0
Frequencyn/a


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