A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2713966



Internal ID10297602
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:10697115..10697468hg38UCSC Ensembl
Outerchr16:10790972..10791325hg19UCSC Ensembl
Cytoband16p13.13
Allele length
AssemblyAllele length
hg38354
hg19354
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6905358, essv6851978, essv6867762, essv6673945, essv6717275
SamplesSSM013, SSM089, SSM031, SSM086, SSM043
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)esv2713966
Frequency
Sample Size96
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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