A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3892167



Internal ID18839877
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:27548131..27634686hg38UCSC Ensembl
Outerchr12:27548131..27634686hg38UCSC Ensembl
Innerchr12:27701064..27787619hg19UCSC Ensembl
Outerchr12:27701064..27787619hg19UCSC Ensembl
Innerchr12:27592331..27678886hg18UCSC Ensembl
Outerchr12:27592331..27678886hg18UCSC Ensembl
Cytoband12p11.23
Allele length
AssemblyAllele length
hg3886556
hg1986556
hg1886556
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv25788298
Samples
Known GenesPPFIBP1
MethodSNP array
Analysis
PlatformIllumina Human OmniExpress
Comments
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)esv3892167
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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