A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2714779



Internal ID10298415
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:81516932..81517481hg38UCSC Ensembl
Outerchr16:81550537..81551086hg19UCSC Ensembl
Cytoband16q23.2
Allele length
AssemblyAllele length
hg38550
hg19550
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6835440, essv6738281, essv6768946
SamplesSSM064, SSM050, SSM082
Known GenesCMIP
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)esv2714779
Frequency
Sample Size96
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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