A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15807358



Internal ID5809174
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:11730579..11732009hg38UCSC Ensembl
Innerchr18:11730629..11731959hg38UCSC Ensembl
Outerchr18:11730529..11732059hg38UCSC Ensembl
chr18:11730578..11732008hg19UCSC Ensembl
Innerchr18:11730628..11731958hg19UCSC Ensembl
Outerchr18:11730528..11732058hg19UCSC Ensembl
Cytoband18p11.21
Allele length
AssemblyAllele length
hg381431
hg191431
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3641810
Supporting Variants
SamplesHG02230
Known GenesGNAL
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15807358
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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