A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15934074



Internal ID5706663
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:74407165..74409436hg38UCSC Ensembl
Innerchr18:74407186..74409416hg38UCSC Ensembl
Outerchr18:74407145..74409457hg38UCSC Ensembl
chr18:72074400..72076671hg19UCSC Ensembl
Innerchr18:72074421..72076651hg19UCSC Ensembl
Outerchr18:72074380..72076692hg19UCSC Ensembl
Cytoband18q22.3
Allele length
AssemblyAllele length
hg382272
hg192272
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3643116
Supporting Variants
SamplesNA19091
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15934074
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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