A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3647727



Internal ID7034467
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:38342110..38343269hg38UCSC Ensembl
Innerchr22:38342237..38343219hg38UCSC Ensembl
Outerchr22:38342030..38343349hg38UCSC Ensembl
chr22:38738115..38739274hg19UCSC Ensembl
Innerchr22:38738242..38739224hg19UCSC Ensembl
Outerchr22:38738035..38739354hg19UCSC Ensembl
Cytoband22q13.1
Allele length
AssemblyAllele length
hg381160
hg191160
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16421353, essv16421361, essv16421358, essv16421374, essv16421357, essv16421364, essv16421385, essv16421388, essv16421365, essv16421360, essv16421382, essv16421386, essv16421356, essv16421369, essv16421383, essv16421372, essv16421359, essv16421367, essv16421390, essv16421373, essv16421375, essv16421368, essv16421376, essv16421362, essv16421377, essv16421366, essv16421370, essv16421389, essv16421381, essv16421380, essv16421371, essv16421355, essv16421378, essv16421379, essv16421363, essv16421352, essv16421387, essv16421384, essv16421354
SamplesHG03449, HG02870, HG02895, NA19446, NA19379, HG03168, NA19916, HG02645, HG02816, NA19922, HG02562, HG02573, HG03212, HG03195, NA19385, NA19209, HG02582, NA19462, HG02450, HG03159, HG02878, HG03294, HG01392, HG03085, HG02884, HG02594, HG03367, NA19434, HG02837, HG03259, NA19439, NA20357, HG03432, NA20348, HG02053, NA19474, NA18522, NA19346, HG03196
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3647727
Frequency
Sample Size2504
Observed Gain0
Observed Loss39
Observed Complex0
Frequencyn/a


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