A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3568665



Internal ID6693361
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:56826055..56826055hg38UCSC Ensembl
chr18:54493286..54493286hg19UCSC Ensembl
chr18:52644284..52644284hg18UCSC Ensembl
Cytoband18q21.31
Allele length
AssemblyAllele length
hg38219
hg19219
hg18219
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1004514
Supporting Variants
SamplesHuRef
Known GenesWDR7
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)essv3568665
Frequency
Sample Size3
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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