A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3603741



Internal ID6643995
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:301153..312236hg38UCSC Ensembl
chr5:301268..312351hg19UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg3811084
hg1911084
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11765487, essv11765489, essv11765488, essv11765490
SamplesNA18550, HG03166, NA19189, HG03016
Known GenesAHRR, PDCD6
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3603741
Frequency
Sample Size2504
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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