A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2718367



Internal ID9952658
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:23137981..23138314hg38UCSC Ensembl
Outerchr19:23320783..23321116hg19UCSC Ensembl
Cytoband19p12
Allele length
AssemblyAllele length
hg38334
hg19334
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6696694, essv6868402, essv6678869, essv6863601, essv6666442, essv6721677, essv6685917, essv6689058, essv6852792, essv6703539, essv6828720, essv6960997, essv6820886, essv6707024, essv6674789, essv6858768, essv6892093, essv6909782, essv6710336, essv6880218, essv6874309
SamplesSSM011, SSM087, SSM097, SSM039, SSM093, SSM088, SSM041, SSM029, SSM026, SSM089, SSM035, SSM032, SSM031, SSM044, SSM014, SSM086, SSM040, SSM078, SSM080, SSM037, SSM034
Known GenesZNF730
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)esv2718367
Frequency
Sample Size96
Observed Gain0
Observed Loss21
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer