A curated catalogue of human genomic structural variation




Variant Details

Variant: essv4016359



Internal ID11398828
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:57024920..57024920hg38UCSC Ensembl
chr18:54692151..54692151hg19UCSC Ensembl
chr18:52843149..52843149hg18UCSC Ensembl
Cytoband18q21.31
Allele length
AssemblyAllele length
hg38482
hg19482
hg18482
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1508428
Supporting Variants
SamplesHuRef
Known GenesWDR7
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)essv4016359
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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