A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6988474



Internal ID12974220
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:34137733..35905114hg38UCSC Ensembl
Innerchr16:33940200..35139485hg19UCSC Ensembl
Innerchr16:33847701..34996986hg18UCSC Ensembl
Innerchr16:33847701..34996986hg17UCSC Ensembl
Cytoband16p11.1
Allele length
AssemblyAllele length
hg381767382
hg191199286
hg181149286
hg171149286
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2751556
Supporting Variants
SamplesBEC_51
Known GenesFLJ26245, LINC00273, LOC100130700, LOC146481, LOC283914, UBE2MP1
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6988474
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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