A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6953883



Internal ID9711607
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:88053455..88054178hg38UCSC Ensembl
Outerchr16:88087061..88087784hg19UCSC Ensembl
Cytoband16q24.2
Allele length
AssemblyAllele length
hg38724
hg19724
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2714954
Supporting Variants
SamplesSSM025
Known GenesBANP
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)essv6953883
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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