A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11161218



Internal ID1163034
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:140211324..140831350hg38UCSC Ensembl
Innerchr3:140211474..140831200hg38UCSC Ensembl
Outerchr3:140211174..140831500hg38UCSC Ensembl
chr3:139930166..140550192hg19UCSC Ensembl
Innerchr3:139930316..140550042hg19UCSC Ensembl
Outerchr3:139930016..140550342hg19UCSC Ensembl
Cytoband3q23
Allele length
AssemblyAllele length
hg38620027
hg19620027
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3597954
Supporting Variants
SamplesNA11994
Known GenesCLSTN2, CLSTN2-AS1, TRIM42
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11161218
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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