A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6981571



Internal ID12625660
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:16877306..18170231hg38UCSC Ensembl
Innerchr16:16971163..18264088hg19UCSC Ensembl
Innerchr16:16878664..18171589hg18UCSC Ensembl
Innerchr16:16878664..18171589hg17UCSC Ensembl
Cytoband16p12.3
Allele length
AssemblyAllele length
hg381292926
hg191292926
hg181292926
hg171292926
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)essv6981571
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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