A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3607596



Internal ID6994528
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:172660394..172725776hg38UCSC Ensembl
chr5:172087397..172152779hg19UCSC Ensembl
Cytoband5q35.1
Allele length
AssemblyAllele length
hg3865383
hg1965383
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12134022, essv12134019, essv12134018, essv12134020, essv12134024, essv12134025, essv12134026, essv12134017, essv12134023, essv12134021
SamplesHG03241, NA19098, HG03099, NA19137, HG03054, NA19436, HG02667, NA19143, NA19312, HG03303
Known GenesNEURL1B
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3607596
Frequency
Sample Size2504
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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