A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2716776



Internal ID10300412
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:9877518..9877915hg38UCSC Ensembl
Outerchr18:9877515..9877912hg19UCSC Ensembl
Cytoband18p11.22
Allele length
AssemblyAllele length
hg38398
hg19398
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6678591, essv6843260, essv6852406, essv6699248, essv6824395, essv6898190
SamplesSSM079, SSM038, SSM084, SSM032, SSM086, SSM099
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)esv2716776
Frequency
Sample Size96
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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