A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12132664



Internal ID2701867
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:171837093..171848715hg38UCSC Ensembl
chr5:171264097..171275719hg19UCSC Ensembl
Cytoband5q35.1
Allele length
AssemblyAllele length
hg3811623
hg1911623
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3607584
Supporting Variants
SamplesHG02386
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12132664
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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