A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11161228



Internal ID1163044
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:140441068..140556300hg38UCSC Ensembl
chr3:140159910..140275142hg19UCSC Ensembl
Cytoband3q23
Allele length
AssemblyAllele length
hg38115233
hg19115233
Variant TypeCNV gain
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3597960
Supporting Variants
SamplesHG03120
Known GenesCLSTN2, CLSTN2-AS1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11161228
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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