A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2751548



Internal ID12985100
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:12724063..12798179hg38UCSC Ensembl
Innerchr16:12817920..12892036hg19UCSC Ensembl
Innerchr16:12725421..12799537hg18UCSC Ensembl
Innerchr16:12725421..12799537hg17UCSC Ensembl
Cytoband16p13.12
Allele length
AssemblyAllele length
hg3874117
hg1974117
hg1874117
hg1774117
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv115e55
Supporting Variantsessv6989438, essv6989980, essv6984544
SamplesBEC_717
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)esv2751548
Frequency
Sample Size771
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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