A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2714220



Internal ID10297856
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:32540284..32541754hg38UCSC Ensembl
Outerchr16:32551605..32553075hg19UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg381471
hg191471
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6750029, essv6735511, essv6858008, essv6714142, essv6975517, essv6936692, essv6744373, essv6913089
SamplesSSM087, SSM021, SSM006, SSM015, SSM053, SSM004, SSM049, SSM056
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)esv2714220
Frequency
Sample Size96
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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