A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3642525



Internal ID7029295
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:51359125..51370608hg38UCSC Ensembl
Innerchr18:51359625..51370108hg38UCSC Ensembl
Outerchr18:51358125..51371608hg38UCSC Ensembl
chr18:48885495..48896978hg19UCSC Ensembl
Innerchr18:48885995..48896478hg19UCSC Ensembl
Outerchr18:48884495..48897978hg19UCSC Ensembl
Cytoband18q21.2
Allele length
AssemblyAllele length
hg3811484
hg1911484
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15869681, essv15869680
SamplesHG04194, HG03802
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3642525
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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