A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15956655



Internal ID5958471
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3643303
Supporting Variants
SamplesNA19908
Known GenesNFATC1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15956655
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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