A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9747403



Internal ID18721649
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:4453086..4454668hg38UCSC Ensembl
Outerchr12:4452962..4454702hg38UCSC Ensembl
Innerchr12:4562252..4563834hg19UCSC Ensembl
Outerchr12:4562128..4563868hg19UCSC Ensembl
Cytoband12p13.32
Allele length
AssemblyAllele length
hg381741
hg191741
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3548656
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)essv9747403
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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