A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3626124



Internal ID11789058
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:79520723..79520723hg38UCSC Ensembl
chr18:77280723..77280723hg19UCSC Ensembl
chr18:75381711..75381711hg18UCSC Ensembl
Cytoband18q23
Allele length
AssemblyAllele length
hg3865
hg1965
hg1865
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1062567
Supporting Variants
SamplesHuRef
Known GenesNFATC1
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)essv3626124
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer