A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2716800



Internal ID9951089
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:11805162..11805348hg38UCSC Ensembl
Outerchr18:11805161..11805347hg19UCSC Ensembl
Cytoband18p11.21
Allele length
AssemblyAllele length
hg38187
hg19187
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv450e201
Supporting Variantsessv6932714, essv6949913, essv6792666, essv6780236, essv6674393
SamplesSSM031, SSM020, SSM024, SSM067, SSM070
Known GenesGNAL
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)esv2716800
Frequency
Sample Size96
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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