A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2715186



Internal ID9949472
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:89635030..89635269hg38UCSC Ensembl
Outerchr16:89701438..89701677hg19UCSC Ensembl
Cytoband16q24.3
Allele length
AssemblyAllele length
hg38240
hg19240
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6820379, essv6688789, essv6966787, essv6867912, essv6863108, essv6949735, essv6685593
SamplesSSM027, SSM078, SSM088, SSM089, SSM035, SSM024, SSM034
Known GenesDPEP1
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)esv2715186
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