A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3549340



Internal ID18750416
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:67533576..67534340hg38UCSC Ensembl
Outerchr12:67533564..67534341hg38UCSC Ensembl
Innerchr12:67927356..67928120hg19UCSC Ensembl
Outerchr12:67927344..67928121hg19UCSC Ensembl
Cytoband12q15
Allele length
AssemblyAllele length
hg38778
hg19778
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9748087
Samples
Known GenesLOC100507175
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3549340
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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