A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15805320



Internal ID5169063
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:11337197..11344543hg38UCSC Ensembl
Innerchr18:11337197..11344543hg38UCSC Ensembl
Outerchr18:11337003..11344775hg38UCSC Ensembl
chr18:11337196..11344542hg19UCSC Ensembl
Innerchr18:11337196..11344542hg19UCSC Ensembl
Outerchr18:11337002..11344774hg19UCSC Ensembl
Cytoband18p11.21
Allele length
AssemblyAllele length
hg387347
hg197347
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3641795
Supporting Variants
SamplesNA18597
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15805320
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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