A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6986233



Internal ID12975351
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:35349706..35562160hg38UCSC Ensembl
Innerchr16:34584077..34796531hg19UCSC Ensembl
Innerchr16:34441578..34654032hg18UCSC Ensembl
Innerchr16:34441578..34654032hg17UCSC Ensembl
Cytoband16p11.1
Allele length
AssemblyAllele length
hg38212455
hg19212455
hg18212455
hg17212455
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2751590
Supporting Variants
SamplesBEC_578
Known GenesLOC100130700, LOC146481, LOC283914
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6986233
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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