A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3573453



Internal ID6698149
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:99650285..99650285hg38UCSC Ensembl
chr12:100044063..100044063hg19UCSC Ensembl
chr12:98568194..98568194hg18UCSC Ensembl
Cytoband12q23.1
Allele length
AssemblyAllele length
hg3870
hg1970
hg1870
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv999514
Supporting Variants
SamplesHuRef
Known GenesANKS1B
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)essv3573453
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