A curated catalogue of human genomic structural variation




Variant Details

Variant: esv998002



Internal ID6733942
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:44230032..44235866hg38UCSC Ensembl
Outerchr1:44695704..44701538hg19UCSC Ensembl
Outerchr1:44468291..44474125hg18UCSC Ensembl
Cytoband1p34.1
Allele length
AssemblyAllele length
hg385835
hg195835
hg185835
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3565736
SamplesHuRef
Known GenesERI3
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv998002
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