A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2750468



Internal ID9984752
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:7229394..7229742hg38UCSC Ensembl
Outerchr16:7279395..7279743hg19UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg38349
hg19349
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv328e201
Supporting Variantsessv6857962, essv6820261, essv6851964, essv6842928, essv6905355
SamplesSSM087, SSM013, SSM084, SSM086, SSM078
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)esv2750468
Frequency
Sample Size96
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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