A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3628902



Internal ID7015724
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:25519657..25528838hg38UCSC Ensembl
chr12:25672591..25681772hg19UCSC Ensembl
Cytoband12p12.1
Allele length
AssemblyAllele length
hg389182
hg199182
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14416066
SamplesHG02087
Known GenesIFLTD1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3628902
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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