A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3548967



Internal ID18403357
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:29691657..29693448hg38UCSC Ensembl
Outerchr12:29691303..29693654hg38UCSC Ensembl
Innerchr12:29844590..29846381hg19UCSC Ensembl
Outerchr12:29844236..29846587hg19UCSC Ensembl
Cytoband12p11.22
Allele length
AssemblyAllele length
hg382352
hg192352
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9747714
Samples
Known GenesTMTC1
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3548967
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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