A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3607013



Internal ID6993948
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:142883544..143067497hg38UCSC Ensembl
chr5:142263109..142447062hg19UCSC Ensembl
Cytoband5q31.3
Allele length
AssemblyAllele length
hg38183954
hg19183954
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12082488, essv12082487, essv12082489
SamplesHG03837, HG00736, HG01073
Known GenesARHGAP26
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3607013
Frequency
Sample Size2504
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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