A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1010171



Internal ID7074236
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:9623950..9625462hg38UCSC Ensembl
Outerchr1:9684008..9685520hg19UCSC Ensembl
Outerchr1:9606595..9608107hg18UCSC Ensembl
Cytoband1p36.22
Allele length
AssemblyAllele length
hg385820
hg195820
hg185820
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3565355
SamplesHuRef
Known Genes
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv1010171
Frequency
Sample Size3
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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