A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6988685



Internal ID12976487
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:35203218..35556063hg38UCSC Ensembl
Innerchr16:34437589..34790434hg19UCSC Ensembl
Innerchr16:34295090..34647935hg18UCSC Ensembl
Innerchr16:34295090..34647935hg17UCSC Ensembl
Cytoband16p11.1
Allele length
AssemblyAllele length
hg38352846
hg19352846
hg18352846
hg17352846
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2751575
Supporting Variants
SamplesBEC_668
Known GenesLOC100130700, LOC146481, LOC283914
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6988685
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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