A curated catalogue of human genomic structural variation




Variant Details

Variant: esv994553



Internal ID7063114
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:2641028..2652640hg38UCSC Ensembl
Outerchr1:2572467..2584079hg19UCSC Ensembl
Outerchr1:2562327..2573939hg18UCSC Ensembl
Cytoband1p36.32
Allele length
AssemblyAllele length
hg3813906
hg1913906
hg1813906
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3565426
SamplesHuRef
Known GenesTTC34
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv994553
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