A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3607337



Internal ID6647578
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:159276823..159478320hg38UCSC Ensembl
chr5:158703831..158905328hg19UCSC Ensembl
Cytoband5q33.3
Allele length
AssemblyAllele length
hg38201498
hg19201498
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12112175, essv12112176
SamplesHG01528, NA21118
Known GenesIL12B, LOC285626, LOC285627, UBLCP1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3607337
Frequency
Sample Size2504
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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