A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3548612



Internal ID18403002
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:1256418..1257199hg38UCSC Ensembl
Outerchr12:1256410..1257203hg38UCSC Ensembl
Innerchr12:1365584..1366365hg19UCSC Ensembl
Outerchr12:1365576..1366369hg19UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg38794
hg19794
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9747359
Samples
Known GenesERC1
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3548612
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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