A curated catalogue of human genomic structural variation




Variant Details

Variant: esv275330



Internal ID1550
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:7454852..7455377hg38UCSC Ensembl
Outerchr16:7454669..7455887hg38UCSC Ensembl
Innerchr16:7504854..7505379hg19UCSC Ensembl
Outerchr16:7504670..7505889hg19UCSC Ensembl
Innerchr16:7444855..7445380hg18UCSC Ensembl
Outerchr16:7444671..7445890hg18UCSC Ensembl
Cytoband16p13.2
Allele length
AssemblyAllele length
hg381219
hg191220
hg181220
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv2585174, essv2585394
Samples
Known GenesRBFOX1
MethodSNP array
AnalysisIdentification of germline Changes in Copy Number (IgC2N)
PlatformAffymetrix SNP 6.0
Comments
ReferenceBanerjee_et_al_2011
Pubmed ID21479260
Accession Number(s)esv275330
Frequency
Sample Size1250
Observed Gain1
Observed Loss1
Observed Complex0
Frequencyn/a


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