A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3563727



Internal ID7036487
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:214596060..214597188hg38UCSC Ensembl
Outerchr1:214769403..214770531hg19UCSC Ensembl
Outerchr1:212836026..212837154hg18UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg381129
hg191129
hg181129
Variant TypeCNV deletion
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv988434
Supporting Variants
SamplesHuRef
Known Genes
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)essv3563727
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