A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2717749



Internal ID9952040
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:604115..604431hg38UCSC Ensembl
Outerchr19:604115..604431hg19UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg38317
hg19317
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6674722, essv6902180, essv6780456, essv6744683, essv6909742, essv6773069, essv6841220, essv6678815, essv6689018, essv6863538, essv6880184, essv6685878, essv6747516, essv6925299, essv6721638, essv6816273, essv6852717, essv6835817, essv6735775, essv6967380, essv6792870, essv6784590, essv6921276, essv6905784
SamplesSSM010, SSM065, SSM027, SSM013, SSM053, SSM082, SSM086, SSM055, SSM088, SSM031, SSM035, SSM032, SSM067, SSM077, SSM012, SSM093, SSM017, SSM034, SSM068, SSM044, SSM014, SSM049, SSM018, SSM070
Known GenesHCN2
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)esv2717749
Frequency
Sample Size96
Observed Gain0
Observed Loss24
Observed Complex0
Frequencyn/a


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