A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2672121



Internal ID9938226
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:182114674..182118463hg38UCSC Ensembl
chr1:182083809..182087598hg19UCSC Ensembl
Cytoband1q25.3
Allele length
AssemblyAllele length
hg383790
hg193790
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5996957, essv5863072, essv5447492, essv6335610
SamplesHG00106, HG00188, NA12829, NA20758
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2672121
Frequency
Sample Size1151
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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