A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1005846



Internal ID7070940
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:65866012..65866355hg38UCSC Ensembl
chr18:63533248..63533591hg19UCSC Ensembl
chr18:61684228..61684571hg18UCSC Ensembl
Cytoband18q22.1
Allele length
AssemblyAllele length
hg38344
hg19344
hg18344
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3576704
SamplesHuRef
Known GenesCDH7
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv1005846
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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