A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3582476



Internal ID7053858
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:9225122..9225456hg38UCSC Ensembl
chr18:9225120..9225454hg19UCSC Ensembl
chr18:9215120..9215454hg18UCSC Ensembl
Cytoband18p11.22
Allele length
AssemblyAllele length
hg38335
hg19335
hg18335
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1009496
Supporting Variants
SamplesHuRef
Known GenesANKRD12
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)essv3582476
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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