A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2673701



Internal ID9939806
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:65037431..65039559hg38UCSC Ensembl
chr7:64497809..64499937hg19UCSC Ensembl
Cytoband7q11.21
Allele length
AssemblyAllele length
hg382129
hg192129
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5833225, essv6362318, essv6419124, essv6589572, essv6107926, essv6365569, essv6582987
SamplesNA19466, NA19332, NA18917, NA20332, NA19381, NA19707, NA19102
Known GenesCCT6P3
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2673701
Frequency
Sample Size1151
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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