A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2751549



Internal ID12638415
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 StatusM
Merged Variants
Supporting Variantsessv6982260, essv6982259
SamplesBEC_408
Known GenesCPPED1
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Affymetrix Mapping 250K Sty2 SNP Array
CommentsSample level SV from stringent call set
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)esv2751549
Frequency
Sample Size771
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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