A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11430393



Internal ID4465808
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:49487572..49510116hg38UCSC Ensembl
chr4:49489589..49512133hg19UCSC Ensembl
Cytoband4p11
Allele length
AssemblyAllele length
hg3822545
hg1922545
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3600478
Supporting Variants
SamplesHG03969
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11430393
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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