A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3608317



Internal ID6995247
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:21889729..21896194hg38UCSC Ensembl
chr6:21889960..21896425hg19UCSC Ensembl
Cytoband6p22.3
Allele length
AssemblyAllele length
hg386466
hg196466
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12220253
SamplesHG03976
Known GenesCASC15
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3608317
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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