A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3647193



Internal ID7033934
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:16590819..16825497hg38UCSC Ensembl
chr22:17071709..17306387hg19UCSC Ensembl
Cytoband22q11.1
Allele length
AssemblyAllele length
hg38234679
hg19234679
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv819e214
Supporting Variantsessv16351483, essv16351482, essv16351488, essv16351480, essv16351489, essv16351486, essv16351485, essv16351487, essv16351484, essv16351490, essv16351479, essv16351481, essv16351491
SamplesHG01438, NA12273, NA19651, HG00113, HG02728, HG00740, HG01679, HG00099, NA19652, HG03899, HG03733, HG00280, HG02006
Known GenesANKRD62P1-PARP4P3, CCT8L2, TPTEP1, XKR3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3647193
Frequency
Sample Size2504
Observed Gain13
Observed Loss0
Observed Complex0
Frequencyn/a


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