A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2715064



Internal ID9949349
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:88862976..88863420hg38UCSC Ensembl
Outerchr16:88929384..88929828hg19UCSC Ensembl
Cytoband16q24.3
Allele length
AssemblyAllele length
hg38445
hg19445
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6932532, essv6920844, essv6703080, essv6792490, essv6800887, essv6717404, essv6843083
SamplesSSM084, SSM043, SSM072, SSM020, SSM039, SSM017, SSM070
Known GenesPABPN1L
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)esv2715064
Frequency
Sample Size96
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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