A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6901070



Internal ID9947054
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:88053964..88054376hg38UCSC Ensembl
Outerchr16:88087570..88087982hg19UCSC Ensembl
Cytoband16q24.2
Allele length
AssemblyAllele length
hg38413
hg19413
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2714955
Supporting Variants
SamplesSSM100
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)essv6901070
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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