A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2675538



Internal ID9941643
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 Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5440336, essv5990773, essv6158607
SamplesHG00635, HG00607, HG00581
Known GenesDSC1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2675538
Frequency
Sample Size1151
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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