A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2659344



Internal ID9578763
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 StatusM
Merged Variants
Supporting Variantsessv6529243, essv6215589, essv5579553, essv6031520
SamplesNA19453, NA19377, NA19434, NA19399
Known GenesNFATC1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2659344
Frequency
Sample Size1151
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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