A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1230e199



Internal ID22759003
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:101357970..101363111hg38UCSC Ensembl
chr7:101001251..101006392hg19UCSC Ensembl
Cytoband7q22.1
Allele length
AssemblyAllele length
hg385142
hg195142
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2661327, esv2678025
SamplesNA19394, HG01462, HG01066, NA19350, HG01518, NA19443, HG01522, HG01140, HG00337, NA19446, NA19396, HG00138, NA19379, NA19448, HG01167, HG00173, NA20769, NA07048, NA19404, NA12282, NA06984, HG01519, NA19372, HG01440, HG00159, HG00133, HG00188, HG00149, NA19437, HG00328, NA12342, NA19347, NA19391, NA20519, NA19461, HG00373, NA19453, NA19338, NA19469, NA19395, HG01107, NA19436, NA19440, NA19321, NA19434, HG00375, HG00136, NA19435, NA19444, NA12347, NA19438, NA19468, NA19474, NA11843, NA20758, NA19780, NA19430, NA07056, NA19316, NA19312, HG00345, NA12890, NA19463, NA07000, NA19429, NA19346, HG01437, NA19431, HG01516
Known GenesCOL26A1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)dgv1230e199
Frequency
Sample Size1151
Observed Gain0
Observed Loss69
Observed Complex0
Frequencyn/a


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