A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11868680



Internal ID1870496
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:36242801..36377333hg38UCSC Ensembl
chr5:36242903..36377435hg19UCSC Ensembl
Cytoband5p13.2
Allele length
AssemblyAllele length
hg38134533
hg19134533
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3604714
Supporting Variants
SamplesNA12717
Known GenesRANBP3L
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11868680
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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