A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6982260



Internal ID12626773
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:12735149..12786589hg38UCSC Ensembl
Innerchr16:12829006..12880446hg19UCSC Ensembl
Innerchr16:12736507..12787947hg18UCSC Ensembl
Innerchr16:12736507..12787947hg17UCSC Ensembl
Cytoband16p13.12
Allele length
AssemblyAllele length
hg3851441
hg1951441
hg1851441
hg1751441
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2751549
Supporting Variants
SamplesBEC_408
Known GenesCPPED1
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6982260
Frequency
Sample Size771
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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