A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11054451



Internal ID1715184
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:81995132..82009819hg38UCSC Ensembl
chr3:82044283..82058970hg19UCSC Ensembl
Cytoband3p12.2
Allele length
AssemblyAllele length
hg3814688
hg1914688
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3596758
Supporting Variants
SamplesHG01596
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11054451
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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