A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13415123



Internal ID2701525
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:18356502..18364845hg38UCSC Ensembl
Innerchr9:18356508..18364839hg38UCSC Ensembl
Outerchr9:18356496..18364851hg38UCSC Ensembl
chr9:18356500..18364843hg19UCSC Ensembl
Innerchr9:18356506..18364837hg19UCSC Ensembl
Outerchr9:18356494..18364849hg19UCSC Ensembl
Cytoband9p22.2
Allele length
AssemblyAllele length
hg388344
hg198344
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3619874
Supporting Variants
SamplesHG02386
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13415123
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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