A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2750431



Internal ID9984715
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:4973232..4973625hg38UCSC Ensembl
Outerchr16:5023233..5023626hg19UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg38394
hg19394
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6932356, essv6779925, essv6796501
SamplesSSM020, SSM071, SSM067
Known GenesSEC14L5
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)esv2750431
Frequency
Sample Size96
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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