A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11933760



Internal ID5253562
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:64145696..64150517hg38UCSC Ensembl
chr5:63441523..63446344hg19UCSC Ensembl
Cytoband5q12.3
Allele length
AssemblyAllele length
hg384822
hg194822
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3605274
Supporting Variants
SamplesNA18635
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11933760
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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