A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1000701



Internal ID7065831
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:65866394..65867002hg38UCSC Ensembl
Outerchr18:63533630..63534238hg19UCSC Ensembl
Outerchr18:61684610..61685218hg18UCSC Ensembl
Cytoband18q22.1
Allele length
AssemblyAllele length
hg38609
hg19609
hg18609
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3563987
SamplesHuRef
Known GenesCDH7
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv1000701
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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