A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2677344



Internal ID9943449
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:196661896..196663983hg38UCSC Ensembl
chr1:196631026..196633113hg19UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg382088
hg192088
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv86e199
Supporting Variantsessv6450904
SamplesNA19704
Known GenesCFH
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2677344
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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