A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3641809



Internal ID7028580
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:11681601..11686421hg38UCSC Ensembl
Innerchr18:11681601..11686421hg38UCSC Ensembl
Outerchr18:11681437..11686793hg38UCSC Ensembl
chr18:11681600..11686420hg19UCSC Ensembl
Innerchr18:11681600..11686420hg19UCSC Ensembl
Outerchr18:11681436..11686792hg19UCSC Ensembl
Cytoband18p11.21
Allele length
AssemblyAllele length
hg384821
hg194821
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15807351, essv15807356, essv15807355, essv15807338, essv15807357, essv15807354, essv15807348, essv15807349, essv15807344, essv15807346, essv15807343, essv15807347, essv15807353, essv15807345, essv15807350, essv15807352, essv15807341, essv15807340, essv15807339, essv15807342
SamplesHG03247, NA19350, HG02804, HG02756, NA19197, NA18498, NA19130, HG02502, HG01077, HG03472, NA18912, HG03046, HG03064, NA19473, HG00638, NA19438, HG03049, NA19474, NA19213, NA19346
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3641809
Frequency
Sample Size2504
Observed Gain0
Observed Loss20
Observed Complex0
Frequencyn/a


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