A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6989980



Internal ID12630477
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:12735142..12777742hg38UCSC Ensembl
Innerchr16:12828999..12871599hg19UCSC Ensembl
Innerchr16:12736500..12779100hg18UCSC Ensembl
Innerchr16:12736500..12779100hg17UCSC Ensembl
Cytoband16p13.12
Allele length
AssemblyAllele length
hg3842601
hg1942601
hg1842601
hg1742601
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2751548
Supporting Variants
SamplesBEC_717
Known GenesCPPED1
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6989980
Frequency
Sample Size771
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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