A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3572246



Internal ID7043628
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:9923260..9923354hg38UCSC Ensembl
chr18:9923257..9923351hg19UCSC Ensembl
chr18:9913257..9913351hg18UCSC Ensembl
Cytoband18p11.22
Allele length
AssemblyAllele length
hg3895
hg1995
hg1895
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1000474
Supporting Variants
SamplesHuRef
Known GenesVAPA
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)essv3572246
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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