A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2713950



Internal ID10297586
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:9394105..9394640hg38UCSC Ensembl
Outerchr16:9487962..9488497hg19UCSC Ensembl
Cytoband16p13.2
Allele length
AssemblyAllele length
hg38536
hg19536
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6673942, essv6702937, essv6824096, essv6877044, essv6920717, essv6665459, essv6975184, essv6768864, essv6928317, essv6776444
SamplesSSM008, SSM064, SSM079, SSM039, SSM092, SSM029, SSM017, 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)esv2713950
Frequency
Sample Size96
Observed Gain0
Observed Loss10
Observed Complex0
Frequencyn/a


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