A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3892277



Internal ID19183097
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:129517767..129528368hg38UCSC Ensembl
Outerchr12:129517767..129528368hg38UCSC Ensembl
Innerchr12:130002312..130012913hg19UCSC Ensembl
Outerchr12:130002312..130012913hg19UCSC Ensembl
Innerchr12:128568265..128578866hg18UCSC Ensembl
Outerchr12:128568265..128578866hg18UCSC Ensembl
Cytoband12q24.32
Allele length
AssemblyAllele length
hg3810602
hg1910602
hg1810602
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv25800323
Samples
Known GenesTMEM132D
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
Comments
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)esv3892277
Frequency
Sample Size3017
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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