A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1176e214



Internal ID22757070
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:35552228..35601118hg38UCSC Ensembl
chr6:35520005..35568895hg19UCSC Ensembl
Cytoband6p21.31
Allele length
AssemblyAllele length
hg3848891
hg1948891
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3608685, esv3608683
SamplesHG00114, HG01098, HG02337, HG01188, NA19107, HG03572, HG03135, HG02541, NA19197, HG02111, NA19922, NA18874, NA19172, HG02471, NA19200, HG01183, HG02678, HG03428, HG01049, HG01092, HG03202, HG02455, HG03117, HG01342, NA19818, HG01086, HG03112, HG03470, NA19316
Known GenesFKBP5
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)dgv1176e214
Frequency
Sample Size2504
Observed Gain29
Observed Loss0
Observed Complex0
Frequencyn/a


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