A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12094489



Internal ID4246369
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:149447386..149492824hg38UCSC Ensembl
chr5:148826949..148872387hg19UCSC Ensembl
Cytoband5q32
Allele length
AssemblyAllele length
hg3845439
hg1945439
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3607140
Supporting Variants
SamplesHG03817
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12094489
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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