A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2663959



Internal ID9583378
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:79424834..79424967hg38UCSC Ensembl
Outerchr18:79424797..79425017hg38UCSC Ensembl
Innerchr18:77184834..77184967hg19UCSC Ensembl
Outerchr18:77184797..77185017hg19UCSC Ensembl
Cytoband18q23
Allele length
AssemblyAllele length
hg38221
hg19221
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5760315, essv6172412, essv5891079, essv6551879, essv5499232, essv6440447, essv6349460
SamplesNA20506, NA20299, NA11931, NA20342, NA11919, NA12763, NA12003
Known GenesNFATC1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2663959
Frequency
Sample Size1151
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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