A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1009769



Internal ID6721868
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:59957379..59963538hg38UCSC Ensembl
Outerchr20:58532434..58538593hg19UCSC Ensembl
Outerchr20:57965829..57971988hg18UCSC Ensembl
Cytoband20q13.33
Allele length
AssemblyAllele length
hg386160
hg196160
hg186160
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3564920
SamplesHuRef
Known GenesCDH26
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv1009769
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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