A curated catalogue of human genomic structural variation




Variant Details

Variant: essv4253119



Internal ID11535657
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:65866018..65866362hg38UCSC Ensembl
chr18:63533254..63533598hg19UCSC Ensembl
chr18:61684234..61684578hg18UCSC Ensembl
Cytoband18q22.1
Allele length
AssemblyAllele length
hg38345
hg19345
hg18345
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1389809
Supporting Variants
SamplesHuRef
Known GenesCDH7
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)essv4253119
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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