A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2673882



Internal ID9593301
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:43695137..43695789hg38UCSC Ensembl
chr7:43734736..43735388hg19UCSC Ensembl
Cytoband7p13
Allele length
AssemblyAllele length
hg38653
hg19653
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6078235, essv6509892, essv6374514, essv5524010, essv5908281, essv5501327, essv5903529, essv5962669, essv5956863, essv5539584, essv6129462, essv5931479
SamplesHG01342, NA19783, HG01101, HG00554, HG01080, NA19720, HG01070, HG01095, HG01108, HG01102, NA19779, HG01067
Known GenesCOA1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2673882
Frequency
Sample Size1151
Observed Gain0
Observed Loss12
Observed Complex0
Frequencyn/a


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