A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3642660



Internal ID7029429
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:59395759..59396852hg38UCSC Ensembl
Innerchr18:59395801..59396811hg38UCSC Ensembl
Outerchr18:59395718..59396894hg38UCSC Ensembl
chr18:57062991..57064084hg19UCSC Ensembl
Innerchr18:57063033..57064043hg19UCSC Ensembl
Outerchr18:57062950..57064126hg19UCSC Ensembl
Cytoband18q21.32
Allele length
AssemblyAllele length
hg381094
hg191094
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15894878, essv15894880, essv15894886, essv15894882, essv15894887, essv15894883, essv15894879, essv15894881, essv15894884, essv15894877, essv15894876, essv15894885
SamplesNA19448, NA19385, NA19327, NA19043, NA19031, HG03437, NA19324, NA19310, NA19328, NA19474, NA19316, NA19346
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3642660
Frequency
Sample Size2504
Observed Gain0
Observed Loss12
Observed Complex0
Frequencyn/a


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