A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2668212



Internal ID9934317
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:11836178..11838965hg38UCSC Ensembl
chr7:11875804..11878591hg19UCSC Ensembl
Cytoband7p21.3
Allele length
AssemblyAllele length
hg382788
hg192788
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6094765, essv6234048, essv6506174, essv5542253, essv5457949, essv5565365, essv5862125, essv6481605, essv6343863, essv6061896, essv6037145, essv5679491, essv6299133
SamplesNA18616, NA18558, HG00705, NA18986, NA18973, NA18638, NA19056, HG00701, NA18573, HG00479, HG00473, NA18943, NA18631
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2668212
Frequency
Sample Size1151
Observed Gain0
Observed Loss13
Observed Complex0
Frequencyn/a


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