A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6983248



Internal ID12975056
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:35187330..35468129hg38UCSC Ensembl
Innerchr16:34421701..34702500hg19UCSC Ensembl
Innerchr16:34279202..34560001hg18UCSC Ensembl
Innerchr16:34279202..34560001hg17UCSC Ensembl
Cytoband16p11.1
Allele length
AssemblyAllele length
hg38280800
hg19280800
hg18280800
hg17280800
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2751558
Supporting Variants
SamplesBEC_559
Known GenesLOC283914
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6983248
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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