A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2714947



Internal ID9949232
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:87975788..87975978hg38UCSC Ensembl
Outerchr16:88009394..88009584hg19UCSC Ensembl
Cytoband16q24.2
Allele length
AssemblyAllele length
hg38191
hg19191
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6784212, essv6839243, essv6674145, essv6945627, essv6696188, essv6815971, essv6772676, essv6721286
SamplesSSM083, SSM065, SSM023, SSM031, SSM044, SSM068, SSM037, SSM077
Known GenesBANP
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)esv2714947
Frequency
Sample Size96
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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