A curated catalogue of human genomic structural variation




Variant Details

Variant: esv998209



Internal ID7081612
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:173765943..173765949hg38UCSC Ensembl
chr5:173192946..173192952hg19UCSC Ensembl
chr5:173125552..173125558hg18UCSC Ensembl
Cytoband5q35.2
Allele length
AssemblyAllele length
hg38210
hg19210
hg18210
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3567793
SamplesHuRef
Known Genes
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv998209
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