A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5904386



Internal ID8811417
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:130343762..130358689hg38UCSC Ensembl
Outerchr6:130343605..130358842hg38UCSC Ensembl
Innerchr6:130664907..130679834hg19UCSC Ensembl
Outerchr6:130664750..130679987hg19UCSC Ensembl
Cytoband6q23.1
Allele length
AssemblyAllele length
hg3815238
hg1915238
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2658333
Supporting Variants
SamplesHG00254
Known GenesSAMD3
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5904386
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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