A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11853259



Internal ID5924717
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:29812479..29841516hg38UCSC Ensembl
chr5:29812586..29841623hg19UCSC Ensembl
Cytoband5p13.3
Allele length
AssemblyAllele length
hg3829038
hg1929038
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3604544
Supporting Variants
SamplesNA19332
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11853259
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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