A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2713929



Internal ID9948213
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:8562643..8563303hg38UCSC Ensembl
Outerchr16:8612645..8613305hg19UCSC Ensembl
Cytoband16p13.2
Allele length
AssemblyAllele length
hg38661
hg19661
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6772556, essv6960094, essv6665456
SamplesSSM065, SSM029, SSM026
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)esv2713929
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