A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6988420



Internal ID12625652
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:16851455..18769615hg38UCSC Ensembl
Innerchr16:16945312..18780937hg19UCSC Ensembl
Innerchr16:16852813..18688438hg18UCSC Ensembl
Innerchr16:16852813..18688438hg17UCSC Ensembl
Cytoband16p12.3
Allele length
AssemblyAllele length
hg381918161
hg191835626
hg181835626
hg171835626
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2751550
Supporting Variants
SamplesBEC_301
Known GenesABCC6P1, LOC100288162, MIR3179-1, MIR3179-2, MIR3179-3, MIR3180-1, MIR3180-2, MIR3180-3, MIR6511A-2, MIR6770-2, NOMO2, NPIPA7, NPIPA8, XYLT1
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6988420
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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