A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3608418



Internal ID6995347
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:26763501..26925214hg38UCSC Ensembl
chr6:26762088..26892993hg19UCSC Ensembl
Cytoband6p22.2
Allele length
AssemblyAllele length
hg38161714
hg19130906
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12237229
SamplesNA11933
Known GenesGUSBP2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3608418
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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