A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2657789



Internal ID9577208
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:82290845..82298121hg38UCSC Ensembl
chr7:81920161..81927437hg19UCSC Ensembl
Cytoband7q21.11
Allele length
AssemblyAllele length
hg387277
hg197277
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5719249, essv5537539, essv5528327, essv6207830, essv5441671, essv5592291
SamplesNA18530, HG00421, NA18536, HG00403, NA18606, NA18599
Known GenesCACNA2D1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2657789
Frequency
Sample Size1151
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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