A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3606062



Internal ID6646305
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:103263925..103307145hg38UCSC Ensembl
chr5:102599626..102642846hg19UCSC Ensembl
Cytoband5q21.1
Allele length
AssemblyAllele length
hg3843221
hg1943221
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12002339, essv12002340
SamplesNA19025, HG03118
Known GenesC5orf30
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3606062
Frequency
Sample Size2504
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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