A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3548890



Internal ID18403280
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:23786610..23787150hg38UCSC Ensembl
Outerchr12:23786496..23787230hg38UCSC Ensembl
Innerchr12:23939544..23940084hg19UCSC Ensembl
Outerchr12:23939430..23940164hg19UCSC Ensembl
Cytoband12p12.1
Allele length
AssemblyAllele length
hg38735
hg19735
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9747637
Samples
Known GenesSOX5
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3548890
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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