A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3575671



Internal ID7047053
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:168347933..168347933hg38UCSC Ensembl
chr6:168748613..168748613hg19UCSC Ensembl
chr6:168491462..168491462hg18UCSC Ensembl
Cytoband6q27
Allele length
AssemblyAllele length
hg38123
hg19123
hg18123
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1009874
Supporting Variants
SamplesHuRef
Known Genes
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)essv3575671
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