A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12541110



Internal ID2542926
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:127723211..127729005hg38UCSC Ensembl
chr6:128044356..128050150hg19UCSC Ensembl
Cytoband6q22.33
Allele length
AssemblyAllele length
hg385795
hg195795
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3610728
Supporting Variants
SamplesHG03372
Known GenesTHEMIS
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12541110
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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