A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15812720



Internal ID4011513
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:14025638..14029777hg38UCSC Ensembl
Innerchr18:14025638..14029777hg38UCSC Ensembl
Outerchr18:14025462..14030074hg38UCSC Ensembl
chr18:14025637..14029776hg19UCSC Ensembl
Innerchr18:14025637..14029776hg19UCSC Ensembl
Outerchr18:14025461..14030073hg19UCSC Ensembl
Cytoband18p11.21
Allele length
AssemblyAllele length
hg384140
hg194140
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3641867
Supporting Variants
SamplesHG03667
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15812720
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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