A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6313272



Internal ID9290675
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:31821463..31823219hg38UCSC Ensembl
Outerchr20:31821092..31823589hg38UCSC Ensembl
Innerchr20:30409266..30411022hg19UCSC Ensembl
Outerchr20:30408895..30411392hg19UCSC Ensembl
Cytoband20q11.21
Allele length
AssemblyAllele length
hg382498
hg192498
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2676878
Supporting Variants
SamplesNA18539
Known GenesMYLK2
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv6313272
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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