A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15815644



Internal ID1126846
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:14675450..14712684hg38UCSC Ensembl
Innerchr18:14675450..14712684hg38UCSC Ensembl
Outerchr18:14674950..14713184hg38UCSC Ensembl
chr18:14675449..14712683hg19UCSC Ensembl
Innerchr18:14675449..14712683hg19UCSC Ensembl
Outerchr18:14674949..14713183hg19UCSC Ensembl
Cytoband18p11.21
Allele length
AssemblyAllele length
hg3837235
hg1937235
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3641906
Supporting Variants
SamplesHG00844
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15815644
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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