A curated catalogue of human genomic structural variation




Variant Details

Variant: essv4290978



Internal ID11226830
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:36463414..36463414hg38UCSC Ensembl
chr18:34043377..34043377hg19UCSC Ensembl
chr18:32297375..32297375hg18UCSC Ensembl
Cytoband18q12.2
Allele length
AssemblyAllele length
hg38199
hg19199
hg18199
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1752551
Supporting Variants
SamplesHuRef
Known GenesFHOD3
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)essv4290978
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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