A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9760096



Internal ID18734342
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:43072644..43073368hg38UCSC Ensembl
Outerchr1:43072638..43073373hg38UCSC Ensembl
Innerchr1:43538315..43539039hg19UCSC Ensembl
Outerchr1:43538309..43539044hg19UCSC Ensembl
Cytoband1p34.2
Allele length
AssemblyAllele length
hg38736
hg19736
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3561349
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)essv9760096
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