A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6987951



Internal ID12625369
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:12742890..12786589hg38UCSC Ensembl
Innerchr16:12836747..12880446hg19UCSC Ensembl
Innerchr16:12744248..12787947hg18UCSC Ensembl
Innerchr16:12744248..12787947hg17UCSC Ensembl
Cytoband16p13.12
Allele length
AssemblyAllele length
hg3843700
hg1943700
hg1843700
hg1743700
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2751547
Supporting Variants
SamplesBEC_177
Known GenesCPPED1
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6987951
Frequency
Sample Size771
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer