A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1043802



Internal ID11860242
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:79505469..79505526hg38UCSC Ensembl
chr18:77265469..77265526hg19UCSC Ensembl
chr18:75366457..75366514hg18UCSC 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 Variantsessv4091388
SamplesHuRef
Known GenesNFATC1
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)esv1043802
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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