A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3642254



Internal ID7029024
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:37970018..37971987hg38UCSC Ensembl
Innerchr18:37970018..37971987hg38UCSC Ensembl
Outerchr18:37969786..37972238hg38UCSC Ensembl
chr18:35549982..35551951hg19UCSC Ensembl
Innerchr18:35549982..35551951hg19UCSC Ensembl
Outerchr18:35549750..35552202hg19UCSC Ensembl
Cytoband18q12.2
Allele length
AssemblyAllele length
hg381970
hg191970
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15844401, essv15844422, essv15844410, essv15844406, essv15844405, essv15844397, essv15844420, essv15844424, essv15844413, essv15844429, essv15844416, essv15844425, essv15844412, essv15844427, essv15844436, essv15844433, essv15844407, essv15844434, essv15844426, essv15844400, essv15844399, essv15844409, essv15844402, essv15844432, essv15844437, essv15844417, essv15844431, essv15844430, essv15844439, essv15844428, essv15844438, essv15844415, essv15844423, essv15844435, essv15844398, essv15844404, essv15844396, essv15844414, essv15844418, essv15844421, essv15844403, essv15844411, essv15844408, essv15844419, essv15844395
SamplesNA20294, NA18878, HG03577, HG02888, NA18870, HG03074, HG03436, HG03499, HG02620, NA20291, HG03079, NA19922, NA20278, NA19385, NA19451, HG03048, HG03343, HG03054, NA19707, NA19403, NA19913, HG01498, HG02976, NA18907, HG03123, NA19114, NA18499, NA19225, HG02772, HG02255, HG01858, NA19331, NA18865, NA19143, HG02646, HG01846, HG03060, NA19102, HG02679, HG03538, NA19900, HG01914, HG02805, HG03198, HG02808
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3642254
Frequency
Sample Size2504
Observed Gain0
Observed Loss45
Observed Complex0
Frequencyn/a


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