A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2667723



Internal ID9933828
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:196795597..196920467hg38UCSC Ensembl
Outerchr1:196795563..196920502hg38UCSC Ensembl
Innerchr1:196764727..196889597hg19UCSC Ensembl
Outerchr1:196764693..196889632hg19UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg38124940
hg19124940
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv88e199
Supporting Variantsessv5949719
SamplesNA18873
Known GenesCFHR1, CFHR4
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2667723
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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