A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3548803



Internal ID18749879
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:14792459..14792571hg38UCSC Ensembl
Outerchr12:14792452..14792574hg38UCSC Ensembl
Innerchr12:14945393..14945505hg19UCSC Ensembl
Outerchr12:14945386..14945508hg19UCSC Ensembl
Cytoband12p12.3
Allele length
AssemblyAllele length
hg38123
hg19123
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9747550
Samples
Known GenesWBP11
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3548803
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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