A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3642120



Internal ID7028890
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:31191367..31195961hg38UCSC Ensembl
Innerchr18:31191368..31195961hg38UCSC Ensembl
Outerchr18:31191367..31195962hg38UCSC Ensembl
chr18:28771330..28775924hg19UCSC Ensembl
Innerchr18:28771331..28775924hg19UCSC Ensembl
Outerchr18:28771330..28775925hg19UCSC Ensembl
Cytoband18q12.1
Allele length
AssemblyAllele length
hg384595
hg194595
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15836559, essv15836548, essv15836521, essv15836562, essv15836533, essv15836512, essv15836544, essv15836538, essv15836518, essv15836540, essv15836545, essv15836541, essv15836555, essv15836527, essv15836552, essv15836522, essv15836511, essv15836536, essv15836549, essv15836557, essv15836528, essv15836563, essv15836513, essv15836509, essv15836530, essv15836514, essv15836553, essv15836516, essv15836526, essv15836524, essv15836531, essv15836543, essv15836547, essv15836566, essv15836556, essv15836523, essv15836520, essv15836542, essv15836567, essv15836551, essv15836517, essv15836565, essv15836507, essv15836508, essv15836560, essv15836525, essv15836535, essv15836510, essv15836564, essv15836519, essv15836529, essv15836550, essv15836561, essv15836534, essv15836537, essv15836532, essv15836539, essv15836554, essv15836515, essv15836558, essv15836546
SamplesHG01986, NA19701, HG02628, NA19703, HG03378, HG02012, HG03518, HG02536, NA20359, NA18510, HG03133, HG01325, HG02621, HG03168, HG03499, HG03578, NA20287, HG02816, HG02981, NA18868, NA19235, NA18864, HG02477, HG03369, NA19451, HG02879, HG02716, HG03132, NA19403, NA19455, NA18915, HG03124, NA19118, HG02881, NA19338, HG02585, HG01403, HG02484, HG01896, HG03240, NA19108, HG03367, NA19735, NA19712, HG02546, HG03458, HG03117, HG01958, NA20362, HG02771, NA19117, NA18501, HG02095, NA19223, NA19711, HG02051, HG02947, HG03072, HG02851, HG03439, HG03271
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3642120
Frequency
Sample Size2504
Observed Gain0
Observed Loss61
Observed Complex0
Frequencyn/a


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