A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1785248



Internal ID12601680
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:79409014..79409214hg38UCSC Ensembl
chr18:77169014..77169214hg19UCSC Ensembl
chr18:75270002..75270202hg18UCSC Ensembl
Cytoband18q23
Allele length
AssemblyAllele length
hg38201
hg19201
hg18201
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv4089286
SamplesHuRef
Known GenesNFATC1
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)esv1785248
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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