A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3597954



Internal ID6985091
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11161216, essv11161219, essv11161217, essv11161218
SamplesNA19917, NA11994, HG03120, HG00266
Known GenesCLSTN2, CLSTN2-AS1, TRIM42
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3597954
Frequency
Sample Size2504
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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