A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3567686



Internal ID18422076
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:40397950..40400872hg38UCSC Ensembl
Outerchr6:40397611..40401239hg38UCSC Ensembl
Innerchr6:40365689..40368611hg19UCSC Ensembl
Outerchr6:40365350..40368978hg19UCSC Ensembl
Cytoband6p21.2
Allele length
AssemblyAllele length
hg383629
hg193629
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9766433
Samples
Known GenesLRFN2
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3567686
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