A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11799806



Internal ID3079642
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:5682667..5713715hg38UCSC Ensembl
chr5:5682780..5713828hg19UCSC Ensembl
Cytoband5p15.32
Allele length
AssemblyAllele length
hg3831049
hg1931049
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3603905
Supporting Variants
SamplesHG02700
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11799806
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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