A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6988109



Internal ID12633010
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:6723807..6752377hg38UCSC Ensembl
Innerchr16:6773808..6802378hg19UCSC Ensembl
Innerchr16:6713809..6742379hg18UCSC Ensembl
Innerchr16:6713809..6742379hg17UCSC Ensembl
Cytoband16p13.2
Allele length
AssemblyAllele length
hg3828571
hg1928571
hg1828571
hg1728571
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv34485
Supporting Variants
SamplesNA18500
Known GenesRBFOX1
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6988109
Frequency
Sample Size771
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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