A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2657683



Internal ID9923788
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:196759866..196844529hg38UCSC Ensembl
Outerchr1:196759832..196844564hg38UCSC Ensembl
Innerchr1:196728996..196813659hg19UCSC Ensembl
Outerchr1:196728962..196813694hg19UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg3884733
hg1984733
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv87e199
Supporting Variantsessv6337933
SamplesNA19398
Known GenesCFHR1, CFHR3
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2657683
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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