A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3892252



Internal ID18836386
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:99208607..99231469hg38UCSC Ensembl
Outerchr12:99208607..99231469hg38UCSC Ensembl
Innerchr12:99602385..99625247hg19UCSC Ensembl
Outerchr12:99602385..99625247hg19UCSC Ensembl
Innerchr12:98126516..98149378hg18UCSC Ensembl
Outerchr12:98126516..98149378hg18UCSC Ensembl
Cytoband12q23.1
Allele length
AssemblyAllele length
hg3822863
hg1922863
hg1822863
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv25779750
Samples
Known GenesANKS1B
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
Comments
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)esv3892252
Frequency
Sample Size3017
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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