A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11178113



Internal ID2657574
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:148128682..148133927hg38UCSC Ensembl
chr3:147846469..147851714hg19UCSC Ensembl
Cytoband3q24
Allele length
AssemblyAllele length
hg385246
hg195246
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3598126
Supporting Variants
SamplesHG02353
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11178113
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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