A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2713921



Internal ID9948205
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:7229824..7230046hg38UCSC Ensembl
Outerchr16:7279825..7280047hg19UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg38223
hg19223
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6776145, essv6851966, essv6820262
SamplesSSM086, SSM066, 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)esv2713921
Frequency
Sample Size96
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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