A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2713951



Internal ID10297587
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:9394225..9394408hg38UCSC Ensembl
Outerchr16:9488082..9488265hg19UCSC Ensembl
Cytoband16p13.2
Allele length
AssemblyAllele length
hg38184
hg19184
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6673942, essv6702937, essv6824096, essv6665459, essv6975184, essv6768864, essv6928317
SamplesSSM064, SSM079, SSM039, SSM029, SSM019, SSM031, SSM004
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)esv2713951
Frequency
Sample Size96
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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