A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3641850



Internal ID7028621
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:13127869..13135130hg38UCSC Ensembl
Innerchr18:13127888..13135112hg38UCSC Ensembl
Outerchr18:13127851..13135149hg38UCSC Ensembl
chr18:13127868..13135129hg19UCSC Ensembl
Innerchr18:13127887..13135111hg19UCSC Ensembl
Outerchr18:13127850..13135148hg19UCSC Ensembl
Cytoband18p11.21
Allele length
AssemblyAllele length
hg387262
hg197262
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15811824, essv15811828, essv15811827, essv15811829, essv15811826, essv15811830, essv15811823, essv15811825, essv15811831
SamplesHG03366, NA20320, NA19159, HG02449, HG02014, HG02546, HG03127, NA19096, NA19146
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3641850
Frequency
Sample Size2504
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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