A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2678059



Internal ID9944164
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:6052383..6056305hg38UCSC Ensembl
Outerchr18:6052226..6056458hg38UCSC Ensembl
Innerchr18:6052382..6056304hg19UCSC Ensembl
Outerchr18:6052225..6056457hg19UCSC Ensembl
Cytoband18p11.31
Allele length
AssemblyAllele length
hg384233
hg194233
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5529982
SamplesNA19064
Known GenesL3MBTL4
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2678059
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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