A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5529982



Internal ID9533580
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 Flag1
Merged StatusS
Merged Variantsesv2678059
Supporting Variants
SamplesNA19064
Known GenesL3MBTL4
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5529982
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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