A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9764784



Internal ID18392344
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:95119712..95119939hg38UCSC Ensembl
Outerchr1:95119703..95119946hg38UCSC Ensembl
Innerchr1:95585268..95585495hg19UCSC Ensembl
Outerchr1:95585259..95585502hg19UCSC Ensembl
Cytoband1p21.3
Allele length
AssemblyAllele length
hg38244
hg19244
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3566037
Supporting Variants
Samples
Known GenesTMEM56, TMEM56-RWDD3
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)essv9764784
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