A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1008867



Internal ID6720974
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:220813623..220826361hg38UCSC Ensembl
Outerchr1:220986965..220999703hg19UCSC Ensembl
Outerchr1:219053588..219066326hg18UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg3812739
hg1912739
hg1812739
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3565053
SamplesHuRef
Known GenesMARC1
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv1008867
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer