A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6028176



Internal ID9005579
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:3181224..3181714hg38UCSC Ensembl
Outerchr18:3181185..3181771hg38UCSC Ensembl
Innerchr18:3181222..3181712hg19UCSC Ensembl
Outerchr18:3181183..3181769hg19UCSC Ensembl
Cytoband18p11.31
Allele length
AssemblyAllele length
hg38587
hg19587
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2661000
Supporting Variants
SamplesNA12716
Known GenesMYOM1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv6028176
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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