A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2715176



Internal ID9949462
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:89587516..89588386hg38UCSC Ensembl
Outerchr16:89653924..89654794hg19UCSC Ensembl
Cytoband16q24.3
Allele length
AssemblyAllele length
hg38871
hg19871
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv386e201
Supporting Variantsessv6920855, essv6835468, essv6665679, essv6912207, essv6678445, essv6728896, essv6971480, essv6710003, essv6877135
SamplesSSM046, SSM002, SSM041, SSM028, SSM092, SSM029, SSM017, SSM032, SSM082
Known GenesCPNE7
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)esv2715176
Frequency
Sample Size96
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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