A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3607146



Internal ID6994081
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:149612851..149674770hg38UCSC Ensembl
chr5:148992414..149054333hg19UCSC Ensembl
Cytoband5q32
Allele length
AssemblyAllele length
hg3861920
hg1961920
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1146e214
Supporting Variantsessv12094713, essv12094712
SamplesHG02854, HG01342
Known GenesARHGEF37
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3607146
Frequency
Sample Size2504
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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