A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2714178



Internal ID10297814
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:29219410..29219784hg38UCSC Ensembl
Outerchr16:29230731..29231105hg19UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg38375
hg19375
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6920744, essv6766058, essv6839117, essv6835339, essv6871101, essv6717295, essv6874037, essv6806756
SamplesSSM083, SSM074, SSM090, SSM017, SSM082, SSM091, SSM043, SSM063
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)esv2714178
Frequency
Sample Size96
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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