A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3605577



Internal ID6992515
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:80560590..80585168hg38UCSC Ensembl
chr5:79856409..79880987hg19UCSC Ensembl
Cytoband5q14.1
Allele length
AssemblyAllele length
hg3824579
hg1924579
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11955758, essv11955757, essv11955759, essv11955760
SamplesHG03950, NA21130, NA21114, HG03729
Known GenesANKRD34B
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3605577
Frequency
Sample Size2504
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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