A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2667838



Internal ID9587257
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:79424777..79424931hg38UCSC Ensembl
chr18:77184777..77184931hg19UCSC Ensembl
Cytoband18q23
Allele length
AssemblyAllele length
hg38155
hg19155
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5497222, essv6181020, essv5597571, essv5516574, essv6370535, essv6045344, essv5710619, essv6389137, essv6533677, essv6469407, essv5778720, essv6210631, essv6530732, essv6335997, essv5483908, essv5880419, essv5523317, essv5531040, essv6520106, essv5882556, essv6283061, essv5533316, essv5841449, essv6459093, essv6477983, essv6301842, essv5500348, essv5598687, essv5757860, essv5998514, essv5770498, essv6379966, essv6234857, essv5980248, essv5870519, essv5630865, essv6252878, essv5405160
SamplesHG00323, HG01353, NA20506, HG00127, HG00274, HG00186, NA11931, HG01365, HG00375, HG00111, HG00334, HG00319, HG00253, HG01521, HG00256, HG00154, HG01107, NA11919, NA12004, HG00259, HG01061, HG00315, HG00330, HG00125, NA18973, HG00114, HG00325, NA19731, HG01073, HG01170, HG01069, HG01351, HG01060, HG01334, HG00138, NA12003, HG00345, HG00278
Known GenesNFATC1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2667838
Frequency
Sample Size1151
Observed Gain0
Observed Loss38
Observed Complex0
Frequencyn/a


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