A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11933430



Internal ID817087
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:64068825..64092879hg38UCSC Ensembl
chr5:63364652..63388706hg19UCSC Ensembl
Cytoband5q12.3
Allele length
AssemblyAllele length
hg3824055
hg1924055
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3605270
Supporting Variants
SamplesHG00404
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11933430
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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