A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3540403



Internal ID18741479
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:123052740..123053073hg38UCSC Ensembl
Outerchr6:123052713..123053123hg38UCSC Ensembl
Innerchr6:123373885..123374218hg19UCSC Ensembl
Outerchr6:123373858..123374268hg19UCSC Ensembl
Cytoband6q22.31
Allele length
AssemblyAllele length
hg38411
hg19411
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9739150
Samples
Known GenesCLVS2
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3540403
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