A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2714179



Internal ID10297815
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:29224268..29226230hg38UCSC Ensembl
Outerchr16:29235589..29237551hg19UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg381963
hg191963
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6932383, essv6728770, essv6810110, essv6888382, essv6812581, essv6742043, essv6690543
SamplesSSM046, SSM009, SSM096, SSM020, SSM007, SSM005, SSM076
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)esv2714179
Frequency
Sample Size96
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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