A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15842428



Internal ID4225292
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:36270024..36276740hg38UCSC Ensembl
Innerchr18:36270037..36276728hg38UCSC Ensembl
Outerchr18:36270012..36276753hg38UCSC Ensembl
chr18:33849987..33856703hg19UCSC Ensembl
Innerchr18:33850000..33856691hg19UCSC Ensembl
Outerchr18:33849975..33856716hg19UCSC Ensembl
Cytoband18q12.2
Allele length
AssemblyAllele length
hg386717
hg196717
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3642222
Supporting Variants
SamplesHG03802
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15842428
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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