A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3643303



Internal ID6683383
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:79408646..79434861hg38UCSC Ensembl
Innerchr18:79408646..79434861hg38UCSC Ensembl
Outerchr18:79408146..79435361hg38UCSC Ensembl
chr18:77168646..77194861hg19UCSC Ensembl
Innerchr18:77168646..77194861hg19UCSC Ensembl
Outerchr18:77168146..77195361hg19UCSC Ensembl
Cytoband18q23
Allele length
AssemblyAllele length
hg3826216
hg1926216
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15956653, essv15956654, essv15956655
SamplesNA19908, NA06984, HG03061
Known GenesNFATC1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3643303
Frequency
Sample Size2504
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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