A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2718587



Internal ID9952879
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:41914213..41915000hg38UCSC Ensembl
Outerchr19:42418365..42419152hg19UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg38788
hg19788
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6750406, essv6741916, essv6868433, essv6961030, essv6932979, essv6781776, essv6901408, essv6863630, essv6756352, essv6885787, essv6807164, essv6874553, essv6835889, essv6852823, essv6902265, essv6914852, essv6761681, essv6814599, essv6921380, essv6703569, essv6967510, essv6666491, essv6820912, essv6738639, essv6783709, essv6925379, essv6729343, essv6710352, essv6874462
SamplesSSM100, SSM008, SSM027, SSM046, SSM011, SSM039, SSM009, SSM050, SSM074, SSM088, SSM002, SSM041, SSM058, SSM018, SSM061, SSM029, SSM026, SSM089, SSM017, SSM001, SSM086, SSM082, SSM020, SSM078, SSM091, SSM095, SSM052, SSM056, 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)esv2718587
Frequency
Sample Size96
Observed Gain0
Observed Loss29
Observed Complex0
Frequencyn/a


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