A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12220252



Internal ID6095828
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:21889729..21896194hg38UCSC Ensembl
chr6:21889960..21896425hg19UCSC Ensembl
Cytoband6p22.3
Allele length
AssemblyAllele length
hg386466
hg196466
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3608316
Supporting Variants
SamplesNA19473
Known GenesCASC15
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12220252
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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