A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11400477



Internal ID1402293
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:39406047..39412651hg38UCSC Ensembl
chr4:39407667..39414271hg19UCSC Ensembl
Cytoband4p14
Allele length
AssemblyAllele length
hg386605
hg196605
Variant TypeCNV gain
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3600279
Supporting Variants
SamplesHG00320
Known GenesKLB, MIR1273H
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11400477
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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