A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3642507



Internal ID7029277
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:50298280..50302721hg38UCSC Ensembl
Innerchr18:50298780..50302221hg38UCSC Ensembl
Outerchr18:50297280..50303721hg38UCSC Ensembl
chr18:47824650..47829091hg19UCSC Ensembl
Innerchr18:47825150..47828591hg19UCSC Ensembl
Outerchr18:47823650..47830091hg19UCSC Ensembl
Cytoband18q21.1
Allele length
AssemblyAllele length
hg384442
hg194442
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15869558, essv15869559, essv15869549, essv15869524, essv15869555, essv15869560, essv15869543, essv15869535, essv15869523, essv15869566, essv15869554, essv15869532, essv15869525, essv15869541, essv15869531, essv15869537, essv15869536, essv15869527, essv15869562, essv15869534, essv15869556, essv15869551, essv15869522, essv15869540, essv15869526, essv15869553, essv15869538, essv15869544, essv15869546, essv15869530, essv15869547, essv15869529, essv15869528, essv15869548, essv15869521, essv15869533, essv15869564, essv15869552, essv15869565, essv15869563, essv15869557, essv15869545, essv15869550, essv15869519, essv15869568, essv15869567, essv15869539, essv15869518, essv15869542, essv15869561, essv15869520, essv15869569
SamplesHG03559, NA18924, HG03300, HG03521, HG03298, HG03126, HG03464, NA19171, HG03452, NA19448, HG02541, HG02840, HG03342, HG02981, HG03209, HG02703, NA19238, NA19036, NA19026, HG02946, HG03058, HG02623, NA19657, NA18933, HG03428, NA18871, HG02968, NA19031, NA19318, HG01990, HG01896, HG03064, HG02667, HG03458, NA19331, NA20362, NA19835, NA19334, HG03127, HG03084, NA20334, HG02107, HG03063, HG02676, NA19102, NA19213, HG01914, NA19755, HG03376, NA19463, NA18511, HG03196
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3642507
Frequency
Sample Size2504
Observed Gain0
Observed Loss52
Observed Complex0
Frequencyn/a


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