A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3576704



Internal ID7048086
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 StateHeterozygous
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1005846
Supporting Variants
SamplesHuRef
Known GenesCDH7
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)essv3576704
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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