A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3551122



Internal ID18405512
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:17683163..17683368hg38UCSC Ensembl
Outerchr1:17683142..17683397hg38UCSC Ensembl
Innerchr1:18009658..18009863hg19UCSC Ensembl
Outerchr1:18009637..18009892hg19UCSC Ensembl
Cytoband1p36.13
Allele length
AssemblyAllele length
hg38256
hg19256
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9749869
Samples
Known GenesARHGEF10L
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3551122
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