A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2677991



Internal ID9944096
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:71651837..71654727hg38UCSC Ensembl
chr4:72517554..72520444hg19UCSC Ensembl
Cytoband4q13.3
Allele length
AssemblyAllele length
hg382891
hg192891
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5563170, essv5990030
SamplesHG01351, NA20503
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2677991
Frequency
Sample Size1151
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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