A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5979408



Internal ID8771129
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:106598401..106600237hg38UCSC Ensembl
Outerchr6:106598364..106600287hg38UCSC Ensembl
Innerchr6:107046276..107048112hg19UCSC Ensembl
Outerchr6:107046239..107048162hg19UCSC Ensembl
Cytoband6q21
Allele length
AssemblyAllele length
hg381924
hg191924
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2658148
Supporting Variants
SamplesHG00171
Known GenesRTN4IP1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5979408
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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