A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6529243



Internal ID9506646
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:79473730..79475561hg38UCSC Ensembl
chr18:77233730..77235561hg19UCSC Ensembl
Cytoband18q23
Allele length
AssemblyAllele length
hg381832
hg191832
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2659344
Supporting Variants
SamplesNA19453
Known GenesNFATC1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv6529243
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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