A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2656202



Internal ID8372707
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:66552538..66553653hg38UCSC Ensembl
Innerchr18:64219775..64220890hg19UCSC Ensembl
Innerchr18:62370755..62371870hg18UCSC Ensembl
Cytoband18q22.1
Allele length
AssemblyAllele length
hg381116
hg191116
hg181116
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5395210
Samples2305 [4]
Known GenesCDH19
MethodMerging
AnalysisCalls merged from CNV Partition and PennCV algorithms
PlatformMerging
Comments
ReferenceChia_et_al_2012
Pubmed ID23635498
Accession Number(s)esv2656202
Frequency
Sample Size64
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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