A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2668140



Internal ID9934245
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:230444328..230453719hg38UCSC Ensembl
chr1:230580074..230589465hg19UCSC Ensembl
Cytoband1q42.13
Allele length
AssemblyAllele length
hg389392
hg199392
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5465795, essv6481915, essv6124455, essv6003989, essv5700637, essv5503773, essv5995248, essv5785938, essv6475580, essv5738634, essv5813635, essv5875921, essv6409145
SamplesNA19394, NA19466, NA19451, NA19247, HG01187, NA19707, NA19347, NA20344, NA18856, NA19436, HG00265, NA19439, NA19376
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2668140
Frequency
Sample Size1151
Observed Gain0
Observed Loss13
Observed Complex0
Frequencyn/a


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