A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3643304



Internal ID6683384
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:79459654..79470163hg38UCSC Ensembl
Innerchr18:79459654..79470163hg38UCSC Ensembl
Outerchr18:79459154..79470663hg38UCSC Ensembl
chr18:77219654..77230163hg19UCSC Ensembl
Innerchr18:77219654..77230163hg19UCSC Ensembl
Outerchr18:77219154..77230663hg19UCSC Ensembl
Cytoband18q23
Allele length
AssemblyAllele length
hg3810510
hg1910510
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15956656, essv15956660, essv15956657, essv15956661, essv15956659, essv15956658
SamplesNA18995, NA06984, HG00182, NA19908, NA18747, NA19080
Known GenesNFATC1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3643304
Frequency
Sample Size2504
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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