A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2752083



Internal ID12638949
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:28951..346521hg38UCSC Ensembl
Innerchr5:28949..346636hg19UCSC Ensembl
Innerchr5:81949..399636hg18UCSC Ensembl
Innerchr5:81949..399636hg17UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg38317571
hg19317688
hg18317688
hg17317688
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6981183, essv6985508, essv6981184, essv6981182
SamplesBEC_361
Known GenesAHRR, CCDC127, LOC102467073, LRRC14B, PDCD6, PLEKHG4B, SDHA
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)esv2752083
Frequency
Sample Size771
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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