A curated catalogue of human genomic structural variation




Variant Details

Variant: esv34350



Internal ID12643703
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:7014035..7031958hg38UCSC Ensembl
Innerchr16:7064036..7081959hg19UCSC Ensembl
Innerchr16:7004037..7021960hg18UCSC Ensembl
Innerchr16:7004037..7021960hg17UCSC Ensembl
Cytoband16p13.2
Allele length
AssemblyAllele length
hg3817924
hg1917924
hg1817924
hg1717924
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6988214, essv6989108
SamplesNA18593
Known GenesRBFOX1
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
CommentsSample level SV from stringent call set
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)esv34350
Frequency
Sample Size771
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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