A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2714590



Internal ID10298226
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:60670558..60671037hg38UCSC Ensembl
Outerchr16:60704462..60704941hg19UCSC Ensembl
Cytoband16q21
Allele length
AssemblyAllele length
hg38480
hg19480
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6692085, essv6713508, essv6776966, essv6800847, essv6796626
SamplesSSM036, SSM008, SSM071, SSM042, SSM072
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)esv2714590
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