A curated catalogue of human genomic structural variation




Variant Details

Variant: essv84213



Internal ID11303524
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:21593909..21668731hg38UCSC Ensembl
Innerchr18:19173870..19248692hg19UCSC Ensembl
Innerchr18:17427868..17502690hg18UCSC Ensembl
Cytoband18q11.2
Allele length
AssemblyAllele length
hg3874823
hg1974823
hg1874823
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv29974
Supporting Variants
SamplesHuRef
Known GenesABHD3, ESCO1, SNRPD1
MethodMerging
AnalysisNo Reference, merging experiment
PlatformNot Reported
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)essv84213
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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