A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11421347



Internal ID4774819
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:44955239..44977715hg38UCSC Ensembl
chr4:44957256..44979732hg19UCSC Ensembl
Cytoband4p12
Allele length
AssemblyAllele length
hg3822477
hg1922477
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3600397
Supporting Variants
SamplesNA11881
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11421347
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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