A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1593083



Internal ID12409518
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:79505556..79505613hg38UCSC Ensembl
chr18:77265556..77265613hg19UCSC Ensembl
chr18:75366544..75366601hg18UCSC Ensembl
Cytoband18q23
Allele length
AssemblyAllele length
hg3858
hg1958
hg1858
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3851625
SamplesHuRef
Known GenesNFATC1
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)esv1593083
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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