A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3892123



Internal ID18839833
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:551865..674318hg38UCSC Ensembl
Outerchr12:551865..674318hg38UCSC Ensembl
Innerchr12:661031..783484hg19UCSC Ensembl
Outerchr12:661031..783484hg19UCSC Ensembl
Innerchr12:531292..653745hg18UCSC Ensembl
Outerchr12:531292..653745hg18UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg38122454
hg19122454
hg18122454
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv25792533
Samples
Known GenesB4GALNT3, NINJ2
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
Comments
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)esv3892123
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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