A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6983808



Internal ID12629283
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:27517859..27701088hg38UCSC Ensembl
Innerchr16:27529180..27712409hg19UCSC Ensembl
Innerchr16:27436681..27619910hg18UCSC Ensembl
Innerchr16:27436681..27619910hg17UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg38183230
hg19183230
hg18183230
hg17183230
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2751555
Supporting Variants
SamplesBEC_629
Known GenesGTF3C1, KIAA0556
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6983808
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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