A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1006618



Internal ID7071711
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:79408502..79409264hg38UCSC Ensembl
Outerchr18:77168502..77169264hg19UCSC Ensembl
Outerchr18:75269490..75270252hg18UCSC Ensembl
Cytoband18q23
Allele length
AssemblyAllele length
hg38763
hg19763
hg18763
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3563477
SamplesHuRef
Known GenesNFATC1
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv1006618
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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