A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3567349



Internal ID18768425
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:18401917..18402543hg38UCSC Ensembl
Outerchr6:18401834..18402659hg38UCSC Ensembl
Innerchr6:18402148..18402774hg19UCSC Ensembl
Outerchr6:18402065..18402890hg19UCSC Ensembl
Cytoband6p22.3
Allele length
AssemblyAllele length
hg38826
hg19826
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9766096
Samples
Known GenesRNF144B
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3567349
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer