A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5990773



Internal ID8987576
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:31137975..31138823hg38UCSC Ensembl
chr18:28717938..28718786hg19UCSC Ensembl
Cytoband18q12.1
Allele length
AssemblyAllele length
hg38849
hg19849
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2675538
Supporting Variants
SamplesHG00581
Known GenesDSC1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5990773
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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