A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3630445



Internal ID6670582
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:95990852..96016216hg38UCSC Ensembl
chr12:96384630..96409994hg19UCSC Ensembl
Cytoband12q23.1
Allele length
AssemblyAllele length
hg3825365
hg1925365
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14577995
SamplesHG00335
Known GenesHAL, LTA4H
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3630445
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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