A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6981572



Internal ID12625659
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:16877342..18170242hg38UCSC Ensembl
Innerchr16:16971199..18264099hg19UCSC Ensembl
Innerchr16:16878700..18171600hg18UCSC Ensembl
Innerchr16:16878700..18171600hg17UCSC Ensembl
Cytoband16p12.3
Allele length
AssemblyAllele length
hg381292901
hg191292901
hg181292901
hg171292901
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2751550
Supporting Variants
SamplesBEC_301
Known GenesXYLT1
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6981572
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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