A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2673919



Internal ID9940024
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:63784545..63787187hg38UCSC Ensembl
Outerchr6:63784508..63787237hg38UCSC Ensembl
Innerchr6:64494438..64497080hg19UCSC Ensembl
Outerchr6:64494401..64497130hg19UCSC Ensembl
Cytoband6q12
Allele length
AssemblyAllele length
hg382730
hg192730
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6428082
SamplesNA19116
Known GenesEYS
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2673919
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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