A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3608729



Internal ID6995653
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:38178109..38214561hg38UCSC Ensembl
chr6:38145885..38182337hg19UCSC Ensembl
Cytoband6p21.2
Allele length
AssemblyAllele length
hg3836453
hg1936453
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12322519
SamplesHG00662
Known GenesBTBD9
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3608729
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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