A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12002252



Internal ID4272142
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:102399392..102498562hg38UCSC Ensembl
chr5:101735096..101834266hg19UCSC Ensembl
Cytoband5q21.1
Allele length
AssemblyAllele length
hg3899171
hg1999171
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3606048
Supporting Variants
SamplesHG03837
Known GenesSLCO6A1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12002252
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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