A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12122324



Internal ID4382813
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:163336881..163344686hg38UCSC Ensembl
chr5:162763887..162771692hg19UCSC Ensembl
Cytoband5q34
Allele length
AssemblyAllele length
hg387806
hg197806
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3607451
Supporting Variants
SamplesHG03908
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12122324
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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