A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3647426



Internal ID7034167
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22_KI270879v1_alt:239419..285699hg38UCSC Ensembl
chr22:24345244..24391524hg19UCSC Ensembl
Cytoband22q11.23
Allele length
AssemblyAllele length
hg3846281
hg1946281
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16393927, essv16393932, essv16393931, essv16393926, essv16393924, essv16393928, essv16393930, essv16393933, essv16393929, essv16393923, essv16393925
SamplesHG04212, HG03593, NA12414, NA20899, HG03941, HG02312, NA20884, HG01247, HG03634, HG03863, HG02947
Known GenesGSTT1, GSTTP1, GSTTP2, LOC391322
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3647426
Frequency
Sample Size2504
Observed Gain11
Observed Loss0
Observed Complex0
Frequencyn/a


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