A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6988631



Internal ID12974883
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:35252489..35522700hg38UCSC Ensembl
Innerchr16:34486860..34757071hg19UCSC Ensembl
Innerchr16:34344361..34614572hg18UCSC Ensembl
Innerchr16:34344361..34614572hg17UCSC Ensembl
Cytoband16p11.1
Allele length
AssemblyAllele length
hg38270212
hg19270212
hg18270212
hg17270212
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2751607
Supporting Variants
SamplesBEC_547
Known GenesLOC100130700, LOC146481, LOC283914
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6988631
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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