A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3549009



Internal ID18750085
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:31747510..31759066hg38UCSC Ensembl
Outerchr12:31747067..31762066hg38UCSC Ensembl
Innerchr12:31900444..31912000hg19UCSC Ensembl
Outerchr12:31900001..31915000hg19UCSC Ensembl
Cytoband12p11.21
Allele length
AssemblyAllele length
hg3815000
hg1915000
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9747756
Samples
Known Genes
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3549009
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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