A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11637566



Internal ID5568462
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:143092519..143103384hg38UCSC Ensembl
chr4:144013672..144024537hg19UCSC Ensembl
Cytoband4q31.21
Allele length
AssemblyAllele length
hg3810866
hg1910866
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3602496
Supporting Variants
SamplesNA19017
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11637566
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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