A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv223e199



Internal ID22757996
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:71592769..71899918hg38UCSC Ensembl
chr11:71303815..71610964hg19UCSC Ensembl
Cytoband11q13.4
Allele length
AssemblyAllele length
hg38307150
hg19307150
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2676663, esv2658771, esv2668396
SamplesHG00242, HG00640, HG00699, NA19393, NA19057, HG00654, NA18611, NA18990, HG01048, HG00108, HG00560, NA19070, NA19081, NA12718, NA19453, HG00276, HG00704, NA19390, HG01489, HG00312, HG00595
Known GenesALG1L9P, DEFB108B, FAM86C1, LOC100129216, LOC100133315, ZNF705E
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)dgv223e199
Frequency
Sample Size1151
Observed Gain0
Observed Loss21
Observed Complex0
Frequencyn/a


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