A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15779280



Internal ID2768639
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:3335192..3336636hg38UCSC Ensembl
Innerchr18:3335193..3336636hg38UCSC Ensembl
Outerchr18:3335192..3336637hg38UCSC Ensembl
chr18:3335190..3336634hg19UCSC Ensembl
Innerchr18:3335191..3336634hg19UCSC Ensembl
Outerchr18:3335190..3336635hg19UCSC Ensembl
Cytoband18p11.31
Allele length
AssemblyAllele length
hg381445
hg191445
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3641592
Supporting Variants
SamplesHG02439
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15779280
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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