A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10993618



Internal ID3859963
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:44661573..44688661hg38UCSC Ensembl
chr3:44703065..44730153hg19UCSC Ensembl
Cytoband3p21.31
Allele length
AssemblyAllele length
hg3827089
hg1927089
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3596038
Supporting Variants
SamplesHG03490
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10993618
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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