A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6989438



Internal ID12630471
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:12742890..12797425hg38UCSC Ensembl
Innerchr16:12836747..12891282hg19UCSC Ensembl
Innerchr16:12744248..12798783hg18UCSC Ensembl
Innerchr16:12744248..12798783hg17UCSC Ensembl
Cytoband16p13.12
Allele length
AssemblyAllele length
hg3854536
hg1954536
hg1854536
hg1754536
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 Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6989438
Frequency
Sample Size771
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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