A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2671511



Internal ID9590930
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:35684356..35685806hg38UCSC Ensembl
chr20:34272278..34273728hg19UCSC Ensembl
Cytoband20q11.22
Allele length
AssemblyAllele length
hg381451
hg191451
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5648312, essv6129262, essv5428359, essv6214739, essv6259262, essv6308723, essv6386095, essv6544919, essv5987312
SamplesNA19397, NA19332, NA19319, NA19197, HG01107, NA19440, NA19712, NA19473, NA19398
Known GenesNFS1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2671511
Frequency
Sample Size1151
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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