A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2750466



Internal ID9984750
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:7029084..7029278hg38UCSC Ensembl
Outerchr16:7079085..7079279hg19UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg38195
hg19195
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6728750, essv6741875
SamplesSSM007, SSM046
Known GenesRBFOX1
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)esv2750466
Frequency
Sample Size96
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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