A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12509735



Internal ID2511551
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:115941729..115968686hg38UCSC Ensembl
chr6:116262892..116289849hg19UCSC Ensembl
Cytoband6q22.1
Allele length
AssemblyAllele length
hg3826958
hg1926958
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3610466
Supporting Variants
SamplesHG00452
Known GenesFRK
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12509735
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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