A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3549615



Internal ID18404005
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:95714413..95714526hg38UCSC Ensembl
Outerchr12:95714411..95714531hg38UCSC Ensembl
Innerchr12:96108191..96108304hg19UCSC Ensembl
Outerchr12:96108189..96108309hg19UCSC Ensembl
Cytoband12q22
Allele length
AssemblyAllele length
hg38121
hg19121
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9748362
Samples
Known GenesNTN4
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3549615
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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