A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2750456



Internal ID9984740
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:6289980..6290405hg38UCSC Ensembl
Outerchr16:6339981..6340406hg19UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg38426
hg19426
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6706624, essv6846317, essv6905354, essv6792334, essv6815851, essv6673938, essv6838142, essv6806737, essv6702935, essv6752906, essv6862971, essv6758550, essv6800719
SamplesSSM010, SSM013, SSM040, SSM088, SSM031, SSM072, SSM057, SSM039, SSM077, SSM085, SSM074, SSM059, SSM070
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)esv2750456
Frequency
Sample Size96
Observed Gain0
Observed Loss13
Observed Complex0
Frequencyn/a


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