A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3548893



Internal ID18403283
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:24307519..24307759hg38UCSC Ensembl
Outerchr12:24307462..24307794hg38UCSC Ensembl
Innerchr12:24460453..24460693hg19UCSC Ensembl
Outerchr12:24460396..24460728hg19UCSC Ensembl
Cytoband12p12.1
Allele length
AssemblyAllele length
hg38333
hg19333
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9747640
Samples
Known GenesSOX5
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3548893
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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