A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3548976



Internal ID18750052
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:30084765..30089554hg38UCSC Ensembl
Outerchr12:30084068..30090726hg38UCSC Ensembl
Innerchr12:30237698..30242487hg19UCSC Ensembl
Outerchr12:30237001..30243659hg19UCSC Ensembl
Cytoband12p11.22
Allele length
AssemblyAllele length
hg386659
hg196659
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9747723
Samples
Known Genes
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3548976
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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