A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3647729



Internal ID7034469
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:38420418..38421123hg38UCSC Ensembl
Innerchr22:38420540..38421073hg38UCSC Ensembl
Outerchr22:38420202..38421339hg38UCSC Ensembl
chr22:38816423..38817128hg19UCSC Ensembl
Innerchr22:38816545..38817078hg19UCSC Ensembl
Outerchr22:38816207..38817344hg19UCSC Ensembl
Cytoband22q13.1
Allele length
AssemblyAllele length
hg38706
hg19706
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16421425, essv16421420, essv16421410, essv16421432, essv16421431, essv16421400, essv16421427, essv16421396, essv16421426, essv16421398, essv16421402, essv16421399, essv16421428, essv16421397, essv16421404, essv16421416, essv16421411, essv16421394, essv16421403, essv16421418, essv16421393, essv16421421, essv16421415, essv16421392, essv16421419, essv16421401, essv16421409, essv16421412, essv16421423, essv16421429, essv16421417, essv16421405, essv16421406, essv16421395, essv16421422, essv16421424, essv16421407, essv16421408, essv16421430, essv16421414, essv16421433, essv16421413
SamplesHG01413, NA19141, HG03378, HG02769, NA19446, NA19379, HG03168, NA19922, HG02562, HG02561, NA20340, NA19385, NA19026, HG03073, NA19462, HG02878, HG03078, HG02884, HG02881, HG03391, HG02979, HG01890, HG01107, HG02484, NA19401, HG02613, HG03028, HG02282, HG02807, NA19434, HG02314, NA19439, HG02839, HG02464, NA19475, HG02771, HG03039, HG03097, NA19351, HG03077, NA19346, HG02760
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3647729
Frequency
Sample Size2504
Observed Gain0
Observed Loss42
Observed Complex0
Frequencyn/a


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