A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2714953



Internal ID9949238
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:87999968..88001219hg38UCSC Ensembl
Outerchr16:88033574..88034825hg19UCSC Ensembl
Cytoband16q24.2
Allele length
AssemblyAllele length
hg381252
hg191252
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6831892, essv6835453
SamplesSSM082, SSM081
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)esv2714953
Frequency
Sample Size96
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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