A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2667807



Internal ID9933912
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:34158199..34160696hg38UCSC Ensembl
chr21:35530499..35532996hg19UCSC Ensembl
Cytoband21q22.11
Allele length
AssemblyAllele length
hg382498
hg192498
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6204253, essv5738769, essv5961761, essv6317668, essv5676889, essv6305753, essv5675308, essv6587745, essv5771170, essv6479287, essv5991354, essv6005799, essv5962418, essv5401089
SamplesNA19190, NA20317, NA19317, NA19189, NA19451, NA18910, NA19257, HG01107, NA19434, NA19439, NA20341, NA19093, NA19463, NA19429
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2667807
Frequency
Sample Size1151
Observed Gain0
Observed Loss14
Observed Complex0
Frequencyn/a


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