A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9739000



Internal ID18366543
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:104774095..104774386hg38UCSC Ensembl
Outerchr6:104774042..104774443hg38UCSC Ensembl
Innerchr6:105221970..105222261hg19UCSC Ensembl
Outerchr6:105221917..105222318hg19UCSC Ensembl
Cytoband6q16.3
Allele length
AssemblyAllele length
hg38402
hg19402
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3540253
Supporting Variants
Samples
Known GenesHACE1
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)essv9739000
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